Variant report

Variant	rs372666577
Chromosome Location	chr10:94450599-94450600
allele	C/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	GATA2	chr10:94450404-94450735	K562	blood:	n/a	n/a
2	POLR2A	chr10:94449260-94452278	HL-60	blood:	n/a	n/a
3	POLR2A	chr10:94449619-94458127	K562	blood:	n/a	n/a
4	TAF1	chr10:94450574-94450995	K562	blood:	n/a	n/a
5	CHD2	chr10:94450553-94450647	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr10:94448657-94452062	NB4	blood:	n/a	chr10:94451525-94451534 chr10:94448823-94448830 chr10:94451440-94451449 chr10:94450120-94450130
7	TBP	chr10:94450226-94450680	K562	blood:	n/a	n/a
8	MBD4	chr10:94450420-94451026	HepG2	liver:	n/a	n/a
9	E2F6	chr10:94450067-94450679	A549	lung:	n/a	n/a
10	RCOR1	chr10:94448029-94451319	IMR90	lung:	n/a	n/a
11	POLR2A	chr10:94450407-94452063	HUVEC	blood vessel:	n/a	n/a
12	RUNX3	chr10:94449585-94450880	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:94449267-94451017	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr10:94449181-94450952	Hela-S3	cervix:	n/a	n/a
15	GATA2	chr10:94450060-94451722	HUVEC	blood vessel:	n/a	chr10:94450729-94450739
16	HEY1	chr10:94449182-94452787	HepG2	liver:	n/a	chr10:94449456-94449471 chr10:94449722-94449737 chr10:94449663-94449678
17	POLR2A	chr10:94449226-94451039	PBDE	blood:	n/a	n/a
18	POLR2A	chr10:94449531-94451280	K562	blood:	n/a	n/a
19	RFX5	chr10:94450173-94450664	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr10:94450396-94450925	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr10:94449569-94451197	K562	blood:	n/a	n/a
22	TCF12	chr10:94449566-94451184	A549	lung:	n/a	chr10:94450955-94450965
23	ELK1	chr10:94450590-94450725	K562	blood:	n/a	n/a
24	GATA2	chr10:94450367-94450799	K562	blood:	n/a	chr10:94450729-94450739
25	POLR2A	chr10:94449284-94451166	HUVEC	blood vessel:	n/a	n/a
26	MAX	chr10:94448488-94450958	A549	lung:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
27	POLR2A	chr10:94449238-94452174	NB4	blood:	n/a	n/a
28	MAFK	chr10:94450503-94450891	K562	blood:	n/a	n/a
29	NR2F2	chr10:94450336-94450933	K562	blood:	n/a	n/a
30	GABPA	chr10:94450503-94450753	K562	blood:	n/a	n/a
31	JUND	chr10:94450180-94450882	K562	blood:	n/a	chr10:94450279-94450287
32	MAX	chr10:94450193-94450769	GM12878	blood:	n/a	n/a
33	MAX	chr10:94448414-94451178	A549	lung:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
34	MAZ	chr10:94449282-94450727	K562	blood:	n/a	chr10:94450120-94450130
35	TEAD4	chr10:94450332-94450926	K562	blood:	n/a	n/a
36	MAX	chr10:94448297-94450604	HepG2	liver:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
37	MYC	chr10:94450491-94450654	K562	blood:	n/a	n/a
38	MYC	chr10:94449246-94450989	K562	blood:	n/a	chr10:94450120-94450130
39	ZMIZ1	chr10:94450425-94450959	K562	blood:	n/a	n/a
40	FOS	chr10:94450080-94450959	HUVEC	blood vessel:	n/a	chr10:94450279-94450287
41	TBL1XR1	chr10:94450399-94450977	K562	blood:	n/a	n/a
42	SPI1	chr10:94450402-94451808	HL-60	blood:	n/a	chr10:94451276-94451289
43	MAX	chr10:94449229-94450628	HCT-116	colon:	n/a	chr10:94450120-94450130
44	SMARCB1	chr10:94448976-94450904	Hela-S3	cervix:	n/a	chr10:94450278-94450287
45	POLR2A	chr10:94449316-94450753	IMR90	lung:	n/a	n/a
46	HCFC1	chr10:94449330-94450876	Hela-S3	cervix:	n/a	n/a
47	TAL1	chr10:94450367-94450972	K562	blood:	n/a	n/a
48	POLR2A	chr10:94450331-94452890	HepG2	liver:	n/a	n/a
49	POLR2A	chr10:94448620-94452554	K562	blood:	n/a	n/a
50	POLR2A	chr10:94449235-94452565	K562	blood:	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	chr10:94449603..94452740-chr10:94589464..94592452,3	K562	blood:
4	chr10:94450024..94450724-chr19:12901932..12902636,2	Hela-S3	cervix:
5	chr10:94333616..94336720-chr10:94448718..94451044,3	K562	blood:
6	chr10:94448193..94452899-chr10:94604769..94609293,6	K562	blood:

Variant related genes	Relation type
HHEX	TF binding region
ENSG00000171223	Chromatin interaction
ENSG00000119912	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000138160	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv1809105	chr10:94449235-94452430	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription 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
17	esv1814996	chr10:94449235-94452430	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
18	esv1820053	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
19	esv1829131	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
20	esv1833890	chr10:94449235-94452430	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
21	esv1837511	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
22	esv1839370	chr10:94449235-94452430	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 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	chr10:94448400-94450600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:94448400-94450600	Active TSS	Osteobl	bone
4	chr10:94448400-94451600	Active TSS	NHLF	lung
5	chr10:94448400-94451800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr10:94448400-94452600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr10:94448400-94452600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr10:94448400-94452800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:94448600-94450600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:94448600-94450600	Active TSS	Aorta	Aorta
11	chr10:94448600-94450600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
12	chr10:94448600-94450600	Bivalent/Poised TSS	NHEK	skin
13	chr10:94448600-94450800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:94448600-94451800	Active TSS	K562	blood
15	chr10:94448600-94451800	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr10:94448600-94452400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:94448600-94452400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
18	chr10:94448600-94452400	Active TSS	Colon Smooth Muscle	Colon
19	chr10:94448600-94452400	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr10:94448800-94450600	Active TSS	Gastric	stomach
21	chr10:94448800-94450600	Active TSS	Rectal Smooth Muscle	rectum
22	chr10:94448800-94450600	Bivalent/Poised TSS	HSMM	muscle
23	chr10:94448800-94450800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr10:94448800-94451000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:94448800-94451600	Active TSS	A549	lung
26	chr10:94448800-94451800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr10:94448800-94451800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:94448800-94451800	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr10:94448800-94452400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr10:94448800-94452600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:94449000-94450600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:94449000-94450600	Active TSS	Esophagus	oesophagus
33	chr10:94449000-94450600	Active TSS	Small Intestine	intestine
34	chr10:94449000-94450600	Active TSS	Hela-S3	cervix
35	chr10:94449000-94450800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr10:94449000-94451800	Active TSS	Liver	Liver
37	chr10:94449000-94451800	Bivalent/Poised TSS	Left Ventricle	heart
38	chr10:94449000-94452600	Active TSS	Lung	lung
39	chr10:94449000-94452600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
40	chr10:94449200-94450600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:94449200-94450600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:94449200-94450600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr10:94449200-94450600	Active TSS	Ovary	ovary
44	chr10:94449200-94450800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr10:94449200-94450800	Active TSS	Pancreas	Pancrea
46	chr10:94449200-94451000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr10:94449200-94451000	Active TSS	HUVEC	blood vessel
48	chr10:94449200-94451600	Active TSS	Primary B cells from peripheral blood	blood
49	chr10:94449200-94451800	Active TSS	Spleen	Spleen
50	chr10:94449200-94452200	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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