Variant report

Variant	rs559715342
Chromosome Location	chr10:94448897-94448898
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:94448756-94448986	H1-hESC	embryonic stem cell:	n/a	chr10:94448823-94448830
2	TCF12	chr10:94448507-94449529	A549	lung:	n/a	chr10:94449473-94449483
3	CTCF	chr10:94448820-94448970	GM12867	blood:	n/a	n/a
4	REST	chr10:94448678-94448998	A549	lung:	n/a	n/a
5	CTCF	chr10:94448880-94449030	NHDF-neo	bronchial:	n/a	n/a
6	E2F6	chr10:94448605-94450527	K562	blood:	n/a	chr10:94449521-94449530 chr10:94449521-94449533 chr10:94449605-94449615
7	RAD21	chr10:94448483-94449075	HepG2	liver:	n/a	n/a
8	MAX	chr10:94448657-94452062	NB4	blood:	n/a	chr10:94451525-94451534 chr10:94448823-94448830 chr10:94451440-94451449 chr10:94450120-94450130
9	SIN3AK20	chr10:94448833-94449082	SK-N-SH	brain:	n/a	n/a
10	BHLHE40	chr10:94448577-94448982	K562	blood:	n/a	n/a
11	RCOR1	chr10:94448029-94451319	IMR90	lung:	n/a	n/a
12	RAD21	chr10:94448515-94449096	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr10:94448367-94449946	HepG2	liver:	n/a	n/a
14	CTCF	chr10:94448840-94448990	WI-38	lung:	n/a	n/a
15	CTCF	chr10:94448642-94448975	GM12891	blood:	n/a	n/a
16	CTCF	chr10:94448535-94448940	K562	blood:	n/a	n/a
17	CTCF	chr10:94448820-94448970	HMF	breast:	n/a	n/a
18	CTCF	chr10:94448860-94449010	Caco-2	colon:	n/a	n/a
19	POLR2A	chr10:94448699-94450346	HepG2	liver:	n/a	n/a
20	MAX	chr10:94448488-94450958	A549	lung:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
21	NFIC	chr10:94448631-94448962	HepG2	liver:	n/a	n/a
22	MAX	chr10:94448461-94450466	K562	blood:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
23	CTCF	chr10:94448700-94448950	HAc	cerebellar:	n/a	n/a
24	CTCF	chr10:94448628-94448931	A549	lung:	n/a	n/a
25	MYC	chr10:94448295-94450402	K562	blood:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
26	CBX3	chr10:94448327-94449135	K562	blood:	n/a	n/a
27	MYC	chr10:94448478-94449033	K562	blood:	n/a	chr10:94448823-94448830
28	RAD21	chr10:94448528-94449077	SK-N-SH_RA	brain:	n/a	n/a
29	RAD21	chr10:94448687-94449063	IMR90	lung:	n/a	n/a
30	MAX	chr10:94448387-94449493	H1-hESC	embryonic stem cell:	n/a	chr10:94448823-94448830
31	TBP	chr10:94448671-94450018	K562	blood:	n/a	n/a
32	MAX	chr10:94448414-94451178	A549	lung:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
33	MAX	chr10:94448297-94450604	HepG2	liver:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
34	E2F4	chr10:94448540-94449945	K562	blood:	n/a	chr10:94449521-94449530 chr10:94449521-94449533 chr10:94449605-94449615
35	RCOR1	chr10:94448319-94449879	K562	blood:	n/a	n/a
36	SIN3AK20	chr10:94448609-94448934	K562	blood:	n/a	n/a
37	CTCF	chr10:94448820-94448970	HA-sp	spinal cord:	n/a	n/a
38	POLR2A	chr10:94448672-94449061	HUVEC	blood vessel:	n/a	n/a
39	SIN3AK20	chr10:94448818-94449406	PANC-1	pancreas:	n/a	n/a
40	ELF1	chr10:94448807-94449175	K562	blood:	n/a	chr10:94448990-94449003
41	RUNX3	chr10:94448466-94449440	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr10:94448748-94450496	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr10:94448620-94452554	K562	blood:	n/a	n/a
44	E2F6	chr10:94448479-94451187	K562	blood:	n/a	chr10:94449521-94449530 chr10:94449521-94449533 chr10:94449605-94449615
45	RAD21	chr10:94448548-94449030	HepG2	liver:	n/a	n/a
46	MYC	chr10:94448785-94450976	NB4	blood:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
47	CTCF	chr10:94448880-94449030	GM12866	blood:	n/a	n/a
48	CTCF	chr10:94448512-94448919	HepG2	liver:	n/a	n/a
49	RCOR1	chr10:94448366-94449725	HepG2	liver:	n/a	n/a
50	CTCF	chr10:94448840-94448990	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
2	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
3	chr10:94333616..94336720-chr10:94448718..94451044,3	K562	blood:
4	chr10:94448193..94452899-chr10:94604769..94609293,6	K562	blood:

Variant related genes	Relation type
HHEX	TF binding region
ENSG00000138160	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1799475	chr10:94392728-94450386	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv1801116	chr10:94392728-94450386	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv1839570	chr10:94392728-94450386	Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv1837497	chr10:94392728-94452430	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv1794949	chr10:94392728-94465559	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv825517	chr10:94397149-94472509	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv825518	chr10:94403446-94467700	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1798525	chr10:94404824-94450386	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	esv1799618	chr10:94404824-94450386	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv1801775	chr10:94404824-94450386	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	esv1837596	chr10:94404824-94450386	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	esv1840926	chr10:94404824-94450386	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	esv1842618	chr10:94404824-94450386	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	esv1802456	chr10:94404824-94452430	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	esv1846797	chr10:94414263-94450386	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	esv1851354	chr10:94414263-94450386	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	esv1851372	chr10:94414263-94450386	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
21	nsv895896	chr10:94429526-94460650	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
22	nsv895897	chr10:94430068-94460650	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
23	esv1813526	chr10:94446041-94449749	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
24	esv1818328	chr10:94446041-94449749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
25	esv1816823	chr10:94446041-94452430	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
26	esv3315862	chr10:94448397-94451545	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
27	esv3315974	chr10:94448397-94451545	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
28	esv3493294	chr10:94448772-94450870	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
29	esv3493295	chr10:94448772-94450870	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94447800-94450600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:94448000-94449200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr10:94448000-94449400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:94448200-94449000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:94448200-94449000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr10:94448200-94449000	Flanking Active TSS	Liver	Liver
7	chr10:94448200-94449400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr10:94448400-94449000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
9	chr10:94448400-94449200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:94448400-94449200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr10:94448400-94449200	Flanking Active TSS	HUVEC	blood vessel
12	chr10:94448400-94449400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:94448400-94450000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr10:94448400-94450600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:94448400-94450600	Active TSS	Osteobl	bone
16	chr10:94448400-94451600	Active TSS	NHLF	lung
17	chr10:94448400-94451800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr10:94448400-94452600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr10:94448400-94452600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr10:94448400-94452800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr10:94448600-94449000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:94448600-94449000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:94448600-94449000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:94448600-94449000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:94448600-94449000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr10:94448600-94449000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
27	chr10:94448600-94449000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr10:94448600-94449000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr10:94448600-94449200	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr10:94448600-94449200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
32	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
34	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
35	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr10:94448600-94449200	Flanking Active TSS	Placenta	Placenta
38	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr10:94448600-94449200	Flanking Active TSS	Pancreas	Pancrea
40	chr10:94448600-94449200	Flanking Bivalent TSS/Enh	NH-A	brain
41	chr10:94448600-94449400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr10:94448600-94449400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr10:94448600-94449400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr10:94448600-94449400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr10:94448600-94449400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr10:94448600-94449400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:94448600-94449400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr10:94448600-94449400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr10:94448600-94449400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr10:94448600-94449400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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