Variant report

Variant	rs188703145
Chromosome Location	chr7:26242204-26242205
allele	A/G
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	EP300	chr7:26239159-26242217	ECC-1	luminal epithelium:	n/a	chr7:26241766-26241782
2	TAF1	chr7:26239110-26242436	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr7:26239148-26242431	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
4	JUND	chr7:26238674-26242523	K562	blood:	n/a	n/a
5	TAF7	chr7:26237656-26242650	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr7:26242098-26242287	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
8	MAX	chr7:26238972-26242566	NB4	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
9	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
10	SP1	chr7:26241928-26242331	H1-hESC	embryonic stem cell:	n/a	chr7:26242001-26242010
11	TBL1XR1	chr7:26241898-26243028	K562	blood:	n/a	n/a
12	MAX	chr7:26238798-26242456	A549	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
13	STAT5A	chr7:26241836-26242407	GM12878	blood:	n/a	n/a
14	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:26238834-26242876	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:26238870-26242222	HL-60	blood:	n/a	n/a
17	MAZ	chr7:26238871-26242525	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
18	MAZ	chr7:26238926-26242354	IMR90	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
19	POLR2A	chr7:26237704-26243017	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr7:26238793-26242579	SK-N-SH	brain:	n/a	n/a
21	BHLHE40	chr7:26239612-26242521	GM12878	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
22	PML	chr7:26238888-26242300	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:26238090-26242320	HUVEC	blood vessel:	n/a	n/a
24	MAX	chr7:26239065-26242292	HepG2	liver:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
25	TEAD4	chr7:26239138-26242239	SK-N-SH	brain:	n/a	n/a
26	WRNIP1	chr7:26242082-26242510	GM12878	blood:	n/a	n/a
27	RUNX3	chr7:26238983-26242374	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:26239343-26242224	ProgFib	skin:	n/a	n/a
29	MAX	chr7:26239405-26242297	MCF-7	breast:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
30	UBTF	chr7:26241068-26242401	K562	blood:	n/a	n/a
31	HCFC1	chr7:26239410-26242880	Hela-S3	cervix:	n/a	n/a
32	MYC	chr7:26239023-26242721	NB4	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
33	MYC	chr7:26239100-26242418	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
34	MAX	chr7:26239687-26242241	ECC-1	luminal epithelium:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
35	EP300	chr7:26242173-26242354	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:26238621-26242625	HL-60	blood:	n/a	n/a
37	POLR2A	chr7:26239262-26242638	H1-neurons	neurons:	n/a	n/a
38	MAX	chr7:26238840-26242635	MCF-7	breast:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
39	SIN3A	chr7:26237680-26242887	H1-hESC	embryonic stem cell:	n/a	chr7:26241605-26241618 chr7:26241619-26241632 chr7:26241563-26241572
40	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:26242199-26242600	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr7:26241874-26244447	K562	blood:	n/a	n/a
43	POLR2A	chr7:26237710-26242391	PFSK-1	brain:	n/a	n/a
44	JUN	chr7:26241829-26242392	K562	blood:	n/a	n/a
45	MXI1	chr7:26238016-26242731	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr7:26237950-26242667	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:26242100-26242601	GM12892	blood:	n/a	n/a
48	POLR2A	chr7:26241812-26243131	SK-N-SH	brain:	n/a	n/a
49	MXI1	chr7:26236746-26242422	K562	blood:	n/a	n/a
50	MYC	chr7:26241649-26242288	H1-hESC	embryonic stem cell:	n/a	chr7:26241999-26242009 chr7:26241769-26241778

No.	Distal block	Cell Line	Cell type
1	chr17:78518626..78519126-chr7:26241370..26242337,2	NB4	blood:
2	chr7:26096714..26102069-chr7:26240159..26243560,6	MCF-7	breast:
3	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
4	chr7:26240189..26242389-chr7:26313126..26315933,2	MCF-7	breast:
5	chr7:26238011..26242916-chr7:26400117..26407916,12	MCF-7	breast:
6	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
7	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
8	chr19:15487333..15489942-chr7:26241262..26242793,2	MCF-7	breast:
9	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
10	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
11	chr7:26240504..26242868-chr7:26414665..26416985,3	MCF-7	breast:

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
ENSG00000268189	Chromatin interaction
ENSG00000141564	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000266430	Chromatin interaction
ENSG00000232383	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000225792	Chromatin interaction
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv606460	chr7:26239704-26243108	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	131 gene(s)	inside rSNPs	n/a
10	esv3353820	chr7:26241388-26242640	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	23 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	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
4	chr7:26236800-26242600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:26237000-26243000	Active TSS	Ovary	ovary
6	chr7:26237000-26243600	Active TSS	Aorta	Aorta
7	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:26237200-26242400	Active TSS	Colonic Mucosa	Colon
10	chr7:26237200-26242800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr7:26237200-26243400	Active TSS	Fetal Muscle Leg	muscle
12	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
14	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:26237200-26245000	Active TSS	Thymus	Thymus
16	chr7:26237400-26242600	Active TSS	Brain Angular Gyrus	brain
17	chr7:26237400-26242600	Active TSS	Brain Anterior Caudate	brain
18	chr7:26237400-26242600	Active TSS	Brain Hippocampus Middle	brain
19	chr7:26237400-26242600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:26237400-26242600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:26237400-26242600	Active TSS	Fetal Kidney	kidney
22	chr7:26237400-26242600	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:26237400-26242600	Active TSS	NHLF	lung
24	chr7:26237400-26242800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:26237400-26243000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:26237400-26243000	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:26237400-26243400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
29	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine
30	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
31	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
32	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:26237600-26242400	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:26237600-26242400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:26237600-26242400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr7:26237600-26242400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:26237600-26242400	Active TSS	Adipose Nuclei	Adipose
40	chr7:26237600-26242400	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:26237600-26242400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:26237600-26242400	Active TSS	Brain Substantia Nigra	brain
43	chr7:26237600-26242400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:26237600-26242600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr7:26237600-26242600	Active TSS	Placenta	Placenta
46	chr7:26237600-26242600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr7:26237600-26242600	Active TSS	Osteobl	bone
48	chr7:26237600-26242800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr7:26237600-26242800	Active TSS	Colon Smooth Muscle	Colon
50	chr7:26237600-26243000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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