Variant report

Variant	rs560149811
Chromosome Location	chr2:37194001-37194002
allele	A/C
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	MAZ	chr2:37192408-37194600	IMR90	lung:	n/a	chr2:37192777-37192787
2	POLR2A	chr2:37193283-37194438	GM12878	blood:	n/a	n/a
3	GATA3	chr2:37193563-37194500	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:37192916-37194448	Hela-S3	cervix:	n/a	n/a
5	TAF1	chr2:37193910-37194198	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:37193834-37194323	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr2:37191247-37195519	SK-N-SH	brain:	n/a	chr2:37195144-37195159
8	ELK1	chr2:37193513-37194134	Hela-S3	cervix:	n/a	n/a
9	TBP	chr2:37193595-37195208	HepG2	liver:	n/a	n/a
10	YY1	chr2:37193418-37194026	K562	blood:	n/a	chr2:37193734-37193748
11	SP1	chr2:37193235-37194109	H1-hESC	embryonic stem cell:	n/a	chr2:37193267-37193276 chr2:37193311-37193320 chr2:37193675-37193686 chr2:37193676-37193690 chr2:37193279-37193293 chr2:37193309-37193321 chr2:37193931-37193940 chr2:37193266-37193278 chr2:37193311-37193320 chr2:37193290-37193299 chr2:37193695-37193709 chr2:37193879-37193889 chr2:37193286-37193300 chr2:37193309-37193321 chr2:37193679-37193693 chr2:37193694-37193705 chr2:37193310-37193319 chr2:37193879-37193889
12	MAX	chr2:37193565-37194332	K562	blood:	n/a	n/a
13	SIN3AK20	chr2:37193889-37194399	A549	lung:	n/a	n/a
14	SIN3AK20	chr2:37193568-37194322	PFSK-1	brain:	n/a	n/a
15	ARID3A	chr2:37193591-37194171	HepG2	liver:	n/a	n/a
16	GTF2F1	chr2:37193750-37194427	K562	blood:	n/a	n/a
17	ELF1	chr2:37193486-37194495	SK-N-SH	brain:	n/a	chr2:37193737-37193749 chr2:37193998-37194011 chr2:37194001-37194010
18	CEBPD	chr2:37193631-37194074	HepG2	liver:	n/a	n/a
19	EP300	chr2:37193533-37194313	K562	blood:	n/a	chr2:37193737-37193746 chr2:37193629-37193645 chr2:37194013-37194022
20	TAF1	chr2:37193404-37194346	K562	blood:	n/a	n/a
21	FOXA1	chr2:37193414-37194553	HepG2	liver:	n/a	n/a
22	CTCF	chr2:37193920-37194070	NHEK	skin:	n/a	n/a
23	JUND	chr2:37193529-37194074	HepG2	liver:	n/a	chr2:37193974-37193983
24	ZNF263	chr2:37193409-37194445	HEK293-T-REx	kidney:	n/a	chr2:37193677-37193698 chr2:37193679-37193688 chr2:37193676-37193685
25	PAX5	chr2:37193577-37194398	GM12878	blood:	n/a	n/a
26	REST	chr2:37193880-37194304	K562	blood:	n/a	chr2:37194197-37194210 chr2:37194093-37194106
27	PAX5	chr2:37193295-37194246	GM12892	blood:	n/a	n/a
28	RCOR1	chr2:37193671-37194398	K562	blood:	n/a	n/a
29	ELK1	chr2:37193488-37194453	GM12878	blood:	n/a	n/a
30	RFX5	chr2:37193651-37194274	Hela-S3	cervix:	n/a	n/a
31	MYC	chr2:37194000-37194254	HepG2	liver:	n/a	n/a
32	FOS	chr2:37193769-37194062	MCF10A-Er-Src	breast:	n/a	chr2:37193974-37193983
33	REST	chr2:37193665-37194238	SK-N-SH	brain:	n/a	chr2:37193679-37193692 chr2:37194197-37194210 chr2:37194093-37194106
34	POLR2A	chr2:37193328-37194413	HCT-116	colon:	n/a	n/a
35	YY1	chr2:37193389-37194302	K562	blood:	n/a	chr2:37194013-37194027 chr2:37193734-37193748
36	EGR1	chr2:37193333-37194070	GM12878	blood:	n/a	chr2:37193930-37193940 chr2:37193697-37193710 chr2:37193694-37193708
37	POLR2A	chr2:37193272-37194430	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:37193119-37194347	MCF-7	breast:	n/a	n/a
39	MAX	chr2:37192721-37194618	A549	lung:	n/a	chr2:37192777-37192787
40	ELF1	chr2:37193568-37194407	A549	lung:	n/a	chr2:37193737-37193749 chr2:37193998-37194011 chr2:37194001-37194010
41	HEY1	chr2:37193047-37194334	HepG2	liver:	n/a	chr2:37193782-37193797
42	POLR2A	chr2:37193208-37194673	K562	blood:	n/a	n/a
43	RELA	chr2:37193576-37194475	GM18951	blood:	n/a	n/a
44	RFX5	chr2:37193565-37194417	GM12878	blood:	n/a	n/a
45	FOXP2	chr2:37193287-37194181	PFSK-1	brain:	n/a	n/a
46	MEF2A	chr2:37193530-37194146	GM12878	blood:	n/a	n/a
47	CREB1	chr2:37193467-37194569	K562	blood:	n/a	n/a
48	MAX	chr2:37193439-37194506	ECC-1	luminal epithelium:	n/a	n/a
49	E2F1	chr2:37193464-37194294	Hela-S3	cervix:	n/a	chr2:37193693-37193705 chr2:37194186-37194198
50	MYC	chr2:37193534-37195540	K562	blood:	n/a	chr2:37195150-37195159

No.	Distal block	Cell Line	Cell type
1	chr2:37186145..37190956-chr2:37191183..37194668,5	K562	blood:
2	chr2:37193543..37195604-chr2:37419400..37421969,2	K562	blood:
3	chr2:37181946..37184586-chr2:37193992..37195533,2	K562	blood:
4	chr17:79478375..79479269-chr2:37193649..37194542,2	HCT-116	colon:
5	chr2:37183661..37187179-chr2:37192061..37194972,3	MCF-7	breast:
6	chr2:37193659..37195188-chr2:37231958..37233613,2	MCF-7	breast:
7	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
8	chr2:37193759..37194604-chr6:30294819..30295525,2	Hela-S3	cervix:

Variant related genes	Relation type
STRN	TF binding region
ENSG00000252518	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000008869	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000152133	Chromatin interaction
ENSG00000184009	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3440334	chr2:37192273-37194821	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv3344704	chr2:37192448-37195146	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37191600-37194600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:37191600-37194600	Active TSS	NHLF	lung
3	chr2:37191800-37194400	Active TSS	Esophagus	oesophagus
4	chr2:37191800-37194600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:37191800-37194600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:37191800-37194600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:37191800-37194600	Active TSS	Left Ventricle	heart
8	chr2:37191800-37195000	Active TSS	NHDF-Ad	bronchial
9	chr2:37192000-37194200	Active TSS	HSMM	muscle
10	chr2:37192000-37194400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:37192000-37194400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:37192000-37194400	Active TSS	NH-A	brain
13	chr2:37192000-37194800	Active TSS	Right Ventricle	heart
14	chr2:37192000-37195000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:37192000-37195000	Active TSS	Psoas Muscle	Psoas
16	chr2:37192200-37194400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:37192200-37194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:37192200-37194400	Active TSS	Fetal Brain Male	brain
19	chr2:37192200-37194600	Active TSS	Duodenum Mucosa	Duodenum
20	chr2:37192200-37194600	Active TSS	Ovary	ovary
21	chr2:37192200-37194600	Active TSS	GM12878-XiMat	blood
22	chr2:37192200-37194800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr2:37192200-37194800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr2:37192200-37194800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:37192200-37194800	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:37192200-37195000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:37192200-37195000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:37192400-37194200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:37192400-37194200	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:37192400-37194200	Active TSS	Fetal Thymus	thymus
31	chr2:37192400-37194400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:37192400-37194600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:37192400-37194600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:37192400-37194600	Active TSS	Placenta	Placenta
35	chr2:37192400-37194600	Active TSS	Fetal Stomach	stomach
36	chr2:37192400-37194600	Active TSS	HMEC	breast
37	chr2:37192400-37194800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:37192400-37194800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:37192400-37194800	Active TSS	Aorta	Aorta
40	chr2:37192400-37194800	Active TSS	Fetal Intestine Small	intestine
41	chr2:37192400-37194800	Active TSS	Fetal Kidney	kidney
42	chr2:37192600-37194200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:37192600-37194200	Active TSS	Osteobl	bone
44	chr2:37192600-37194400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:37192600-37194400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:37192600-37194400	Active TSS	Brain Hippocampus Middle	brain
47	chr2:37192600-37194400	Active TSS	Placenta Amnion	Placenta Amnion
48	chr2:37192600-37194400	Active TSS	HSMMtube	muscle
49	chr2:37192600-37194400	Active TSS	NHEK	skin
50	chr2:37192600-37194600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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