Variant report

Variant	rs3757672
Chromosome Location	chr7:26239294-26239295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:296)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:26239159-26242217	ECC-1	luminal epithelium:	n/a	chr7:26241766-26241782
2	YY1	chr7:26239159-26239357	K562	blood:	n/a	n/a
3	TAF1	chr7:26239110-26242436	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr7:26239193-26240555	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:26238932-26242189	Hela-S3	cervix:	n/a	n/a
6	MYC	chr7:26239148-26242431	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
7	CTCF	chr7:26239260-26239410	NHDF-neo	bronchial:	n/a	n/a
8	JUND	chr7:26238674-26242523	K562	blood:	n/a	n/a
9	TEAD4	chr7:26238916-26240647	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr7:26239240-26239390	HAc	cerebellar:	n/a	n/a
11	TAF7	chr7:26237656-26242650	H1-hESC	embryonic stem cell:	n/a	n/a
12	GABPA	chr7:26239114-26241741	MCF-7	breast:	n/a	n/a
13	CEBPD	chr7:26239242-26241690	K562	blood:	n/a	n/a
14	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
15	MAX	chr7:26238972-26242566	NB4	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
16	RFX5	chr7:26239172-26239458	GM12878	blood:	n/a	n/a
17	STAT5A	chr7:26239000-26240529	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:26239155-26242088	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:26237775-26240495	A549	lung:	n/a	n/a
21	MAX	chr7:26239195-26239387	K562	blood:	n/a	n/a
22	GTF2F1	chr7:26239249-26241602	K562	blood:	n/a	n/a
23	MAX	chr7:26238798-26242456	A549	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
24	CTCF	chr7:26239200-26239350	SK-N-SH_RA	brain:	n/a	n/a
25	POLR2A	chr7:26237645-26241724	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr7:26238529-26241180	K562	blood:	n/a	n/a
27	POLR2A	chr7:26237748-26241705	U87	brain:	n/a	n/a
28	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:26238834-26242876	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:26238870-26242222	HL-60	blood:	n/a	n/a
31	MAZ	chr7:26238871-26242525	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
32	EGR1	chr7:26239103-26239539	K562	blood:	n/a	n/a
33	MAZ	chr7:26238926-26242354	IMR90	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
34	TEAD4	chr7:26239285-26241557	ECC-1	luminal epithelium:	n/a	n/a
35	HEY1	chr7:26238694-26242136	HepG2	liver:	n/a	chr7:26241839-26241854 chr7:26242035-26242050 chr7:26241887-26241902
36	POLR2A	chr7:26237704-26243017	GM12878	blood:	n/a	n/a
37	SIX5	chr7:26239292-26241163	A549	lung:	n/a	n/a
38	SIN3AK20	chr7:26238793-26242579	SK-N-SH	brain:	n/a	n/a
39	NFATC1	chr7:26237834-26240583	GM12878	blood:	n/a	n/a
40	ETS1	chr7:26239199-26240672	A549	lung:	n/a	n/a
41	YY1	chr7:26238799-26241589	SK-N-SH_RA	brain:	n/a	chr7:26241202-26241211
42	TCF7L2	chr7:26239060-26241216	PANC-1	pancreas:	n/a	n/a
43	CTCF	chr7:26239220-26239370	HCPEpiC	choroid plexus:	n/a	n/a
44	SIN3A	chr7:26239150-26241974	GM12878	blood:	n/a	chr7:26241605-26241618 chr7:26241619-26241632 chr7:26241563-26241572
45	CTCF	chr7:26239240-26239390	AG09309	skin:	n/a	n/a
46	POLR2A	chr7:26238836-26242086	GM12878	blood:	n/a	n/a
47	FOXM1	chr7:26238701-26241600	GM12878	blood:	n/a	n/a
48	FOXM1	chr7:26239279-26241615	MCF-7	breast:	n/a	n/a
49	RFX5	chr7:26238802-26240524	K562	blood:	n/a	n/a
50	GTF2F1	chr7:26239047-26241549	Hela-S3	cervix:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
2	chr7:26238730..26241133-chr7:139024277..139026837,2	K562	blood:
3	chr3:161087820..161090854-chr7:26238154..26241381,3	MCF-7	breast:
4	chr7:26238913..26240940-chr7:26408998..26410990,2	MCF-7	breast:
5	chr7:26185994..26190276-chr7:26237355..26239722,4	K562	blood:
6	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
7	chr7:25897759..25900219-chr7:26237473..26240299,2	MCF-7	breast:
8	chr7:26212301..26214165-chr7:26238438..26240076,2	MCF-7	breast:
9	chr7:26239115..26241411-chr7:26331558..26333591,3	K562	blood:
10	chr5:137686616..137688749-chr7:26238842..26240565,2	MCF-7	breast:
11	chr7:26237613..26239408-chr7:26331618..26334363,2	K562	blood:
12	chr1:28835598..28838005-chr7:26238948..26241176,2	K562	blood:
13	chr7:26238387..26240189-chr7:26396014..26397576,2	MCF-7	breast:
14	chr7:26238011..26242916-chr7:26400117..26407916,12	MCF-7	breast:
15	chr7:26206391..26208295-chr7:26237571..26240360,2	MCF-7	breast:
16	chr7:26238752..26241126-chr7:26401530..26405700,5	MCF-7	breast:
17	chr6:17705801..17708591-chr7:26239203..26241423,2	K562	blood:
18	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
19	chr7:26238958..26239930-chrX:49022734..49023422,2	Hela-S3	cervix:
20	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
21	chr7:26238021..26240209-chr7:26414170..26416928,2	MCF-7	breast:
22	chr6:159275166..159275666-chr7:26239102..26239693,2	Hela-S3	cervix:
23	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
24	chr1:46268308..46270413-chr7:26238840..26240934,2	MCF-7	breast:
25	chr7:25989265..25991851-chr7:26238825..26240746,4	MCF-7	breast:
26	chr7:26237797..26240269-chr7:26356166..26359044,2	MCF-7	breast:
27	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
28	chr7:26191482..26195412-chr7:26238481..26241782,5	MCF-7	breast:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000164898	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000120733	Chromatin interaction
ENSG00000086015	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000146963	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000225792	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000272269	Chromatin interaction
ENSG00000124789	Chromatin interaction
ENSG00000199085	Chromatin interaction
ENSG00000269955	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10236009	1.00[CHB][hapmap]
rs10238831	0.85[CHB][hapmap]
rs1025331	0.87[ASN][1000 genomes]
rs10255851	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11486821	0.83[ASN][1000 genomes]
rs11971002	1.00[CHB][hapmap]
rs11974650	1.00[CHB][hapmap]
rs11983671	0.83[ASN][1000 genomes]
rs12700716	0.87[ASN][1000 genomes]
rs28520327	0.87[ASN][1000 genomes]
rs34876113	0.87[ASN][1000 genomes]
rs59097241	1.00[EUR][1000 genomes]
rs6974645	0.87[ASN][1000 genomes]
rs7803845	1.00[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv606459	chr7:26236933-26243108	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	139 gene(s)	inside rSNPs	n/a
6	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
8	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
6	chr7:26234800-26239400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
7	chr7:26234800-26239400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:26234800-26240000	Active TSS	Right Atrium	heart
9	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr7:26235000-26239400	Transcr. at gene 5' and 3'	K562	blood
11	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
12	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
13	chr7:26235600-26239400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
14	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:26236000-26239400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:26236600-26239400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
19	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
20	chr7:26236800-26239400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
21	chr7:26236800-26239400	Transcr. at gene 5' and 3'	Fetal Lung	lung
22	chr7:26236800-26242600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:26237000-26243000	Active TSS	Ovary	ovary
24	chr7:26237000-26243600	Active TSS	Aorta	Aorta
25	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:26237200-26242200	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr7:26237200-26242400	Active TSS	Colonic Mucosa	Colon
29	chr7:26237200-26242800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:26237200-26243400	Active TSS	Fetal Muscle Leg	muscle
31	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
33	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:26237200-26245000	Active TSS	Thymus	Thymus
35	chr7:26237400-26239800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:26237400-26240000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:26237400-26242600	Active TSS	Brain Angular Gyrus	brain
38	chr7:26237400-26242600	Active TSS	Brain Anterior Caudate	brain
39	chr7:26237400-26242600	Active TSS	Brain Hippocampus Middle	brain
40	chr7:26237400-26242600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr7:26237400-26242600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:26237400-26242600	Active TSS	Fetal Kidney	kidney
43	chr7:26237400-26242600	Active TSS	Stomach Smooth Muscle	stomach
44	chr7:26237400-26242600	Active TSS	NHLF	lung
45	chr7:26237400-26242800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:26237400-26243000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:26237400-26243000	Active TSS	Rectal Smooth Muscle	rectum
48	chr7:26237400-26243400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
50	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine

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