Variant report

Variant	rs10238528
Chromosome Location	chr7:32996743-32996744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:32996573-32998541	SK-N-SH	brain:	n/a	n/a
2	ELF1	chr7:32996565-32997918	MCF-7	breast:	n/a	chr7:32997428-32997440
3	EP300	chr7:32996616-32997662	ECC-1	luminal epithelium:	n/a	chr7:32997498-32997514 chr7:32996926-32996942 chr7:32996984-32997000
4	MAX	chr7:32996661-32998121	K562	blood:	n/a	n/a
5	ZKSCAN1	chr7:32996739-32997871	Hela-S3	cervix:	n/a	n/a
6	UBTF	chr7:32996739-32998394	K562	blood:	n/a	n/a
7	TAF1	chr7:32996724-32997790	ECC-1	luminal epithelium:	n/a	n/a
8	BHLHE40	chr7:32996696-32997897	K562	blood:	n/a	chr7:32996925-32996941 chr7:32997584-32997597 chr7:32997586-32997595 chr7:32997587-32997596 chr7:32997586-32997595
9	POLR2A	chr7:32996669-32998435	ProgFib	skin:	n/a	n/a
10	MAX	chr7:32996718-32997916	A549	lung:	n/a	n/a
11	SIN3A	chr7:32996624-32997696	H1-hESC	embryonic stem cell:	n/a	chr7:32996965-32996976 chr7:32997018-32997027
12	YY1	chr7:32996693-32997863	HepG2	liver:	n/a	chr7:32997421-32997435 chr7:32996931-32996942
13	E2F6	chr7:32996583-32998130	A549	lung:	n/a	n/a
14	POLR2A	chr7:32996434-32997886	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr7:32996552-32998233	HUVEC	blood vessel:	n/a	n/a
16	MAX	chr7:32996704-32997893	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:32996254-32998561	HepG2	liver:	n/a	n/a
18	NR3C1	chr7:32996706-32997096	ECC-1	luminal epithelium:	n/a	n/a
19	ZBTB7A	chr7:32996676-32996842	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:32996708-32997660	HepG2	liver:	n/a	n/a
21	ZBTB7A	chr7:32996643-32997305	K562	blood:	n/a	n/a
22	NFIC	chr7:32996599-32997169	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr7:32996628-32997851	U87	brain:	n/a	n/a
24	POLR2A	chr7:32996682-32997788	K562	blood:	n/a	n/a
25	POLR2A	chr7:32996712-32998114	K562	blood:	n/a	n/a
26	YY1	chr7:32996725-32997043	H1-hESC	embryonic stem cell:	n/a	chr7:32996931-32996942
27	RCOR1	chr7:32996703-32998156	K562	blood:	n/a	n/a
28	NR3C1	chr7:32996703-32997711	A549	lung:	n/a	n/a
29	CCNT2	chr7:32996720-32998028	K562	blood:	n/a	chr7:32997642-32997651
30	POLR2A	chr7:32996720-32998641	Hela-S3	cervix:	n/a	n/a
31	MYBL2	chr7:32996620-32997158	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:32996651-32997808	SK-N-MC	brain:	n/a	n/a
33	MYC	chr7:32996714-32998003	K562	blood:	n/a	n/a
34	HMGN3	chr7:32996696-32997719	K562	blood:	n/a	n/a
35	POLR2A	chr7:32996671-32997808	MCF-7	breast:	n/a	n/a
36	SMC3	chr7:32996700-32998452	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:32996695-32997787	A549	lung:	n/a	n/a
38	MAX	chr7:32996600-32998013	MCF-7	breast:	n/a	n/a
39	REST	chr7:32996700-32997142	SK-N-SH	brain:	n/a	chr7:32996926-32996939 chr7:32997017-32997027
40	ZC3H11A	chr7:32996731-32997019	K562	blood:	n/a	n/a
41	USF2	chr7:32996696-32996896	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:32996737-32997656	K562	blood:	n/a	n/a
43	ZBTB7A	chr7:32996642-32997863	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr7:32996649-32997965	HepG2	liver:	n/a	n/a
45	MAX	chr7:32996568-32997962	MCF-7	breast:	n/a	n/a
46	MAX	chr7:32996652-32998246	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr7:32996637-32998547	Hela-S3	cervix:	n/a	n/a
48	RFX5	chr7:32996691-32997667	Hela-S3	cervix:	n/a	n/a
49	ZNF384	chr7:32996583-32997042	K562	blood:	n/a	n/a
50	RCOR1	chr7:32996721-32998024	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:32996733-32996783	HL-60	blood:	n/a
2	chr7:32996733-32996783	RPTEC	kidney:	n/a
3	chr7:32996733-32996783	HCT-116	colon:	n/a
4	chr7:32996733-32996783	GM19239	blood:	n/a
5	chr7:32996733-32996783	NT2-D1	testis:	n/a
6	chr7:32996733-32996783	NHDF-neo	bronchial:	n/a
7	chr7:32996733-32996783	HRE	kidney:	n/a
8	chr7:32996733-32996783	HMEC	breast:	n/a
9	chr7:32996733-32996783	GM06990	blood:	n/a
10	chr7:32996733-32996783	PFSK-1	brain:	n/a
11	chr7:32996733-32996783	SK-N-SH_RA	brain:	n/a
12	chr7:32996733-32996783	PrEC	prostate:	n/a
13	chr7:32996733-32996783	NB4	blood:	n/a
14	chr7:32996733-32996783	SAEC	small airway:	n/a
15	chr7:32996733-32996783	AG09319	gingival:	n/a
16	chr7:32996733-32996783	Hela-S3	cervix:	n/a
17	chr7:32996733-32996783	AG04450	lung:	fetal
18	chr7:32996733-32996783	K562	blood:	n/a
19	chr7:32996733-32996783	HRPEpiC	eye:	n/a
20	chr7:32996733-32996783	MCF-7	breast:	n/a
21	chr7:32996733-32996783	T-47D	breast:	n/a
22	chr7:32996733-32996783	HCPEpiC	choroid plexus:	n/a
23	chr7:32996733-32996783	SK-N-MC	brain:	n/a
24	chr7:32996733-32996783	AG09309	skin:	n/a
25	chr7:32996733-32996783	HUVEC	blood vessel:	n/a
26	chr7:32996733-32996783	HNPCEpiC	eye:	n/a
27	chr7:32996733-32996783	ProgFib	skin:	n/a
28	chr7:32996733-32996783	H1-hESC	embryonic stem cell:	embryo
29	chr7:32996733-32996783	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:32996733-32996783	AG10803	skin:	n/a
31	chr7:32996733-32996783	HepG2	liver:	n/a
32	chr7:32996733-32996783	HCM	heart:	n/a
33	chr7:32996733-32996783	NH-A	brain:	n/a
34	chr7:32996733-32996783	IMR90	lung:	fetal
35	chr7:32996733-32996783	SK-N-SH	brain:	n/a
36	chr7:32996733-32996783	BJ	skin:	n/a
37	chr7:32996733-32996783	HAEpiC	amniotic membrane:	n/a
38	chr7:32996733-32996783	SKMC	muscle:	n/a
39	chr7:32996733-32996783	HRCEpiC	kidney:	n/a
40	chr7:32996733-32996783	HCF	heart:	n/a
41	chr7:32996733-32996783	Jurkat	blood:	n/a
42	chr7:32996733-32996783	GM12892	blood:	n/a
43	chr7:32996733-32996783	Caco-2	colon:	n/a
44	chr7:32996733-32996783	Hepatocyte	liver:	n/a
45	chr7:32996733-32996783	AG04449	skin:	fetal
46	chr7:32996733-32996783	PANC-1	pancreas:	n/a
47	chr7:32996733-32996783	ovcar-3	ovarian:	n/a
48	chr7:32996733-32996783	GM12891	blood:	n/a
49	chr7:32996733-32996783	HEEpiC	esophagus:	n/a
50	chr7:32996733-32996783	HEK293	kidney:	embryo

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:32989917..32992556-chr7:32995431..32996943,2	K562	blood:
2	chr7:32995811..32998630-chr7:33147873..33150650,5	MCF-7	breast:
3	chr7:32928752..32933141-chr7:32994641..32998863,8	K562	blood:
4	chr7:32929839..32934078-chr7:32995806..32999171,10	MCF-7	breast:
5	chr7:32929772..32933437-chr7:32994773..32998551,6	MCF-7	breast:
6	chr20:46129538..46131406-chr7:32995757..32997764,2	MCF-7	breast:
7	chr7:32988824..32991717-chr7:32995412..32996950,2	MCF-7	breast:
8	chr10:134145019..134145665-chr7:32996612..32997131,2	Hela-S3	cervix:
9	chr7:32996658..32997591-chrX:23685231..23685895,2	Hela-S3	cervix:
10	chr7:32981007..32984575-chr7:32996149..32999305,3	K562	blood:
11	chr7:32995362..32998530-chr7:33097317..33102837,7	MCF-7	breast:
12	chr20:2633017..2633602-chr7:32996418..32997034,2	HCT-116	colon:
13	chr7:32989735..32994052-chr7:32995992..32998490,3	MCF-7	breast:
14	chr7:32979720..32982452-chr7:32995227..32996993,2	MCF-7	breast:
15	chr7:32982489..32988008-chr7:32995538..32999914,10	MCF-7	breast:

No data

Variant related genes	Relation type
FKBP9	TF binding region
FKBP9	CpG island
ENSG00000122643	Chromatin interaction
ENSG00000123131	Chromatin interaction
ENSG00000148814	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000224573	Chromatin interaction
ENSG00000101361	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000221062	Chromatin interaction
ENSG00000165752	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000164610	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10269511	1.00[CEU][hapmap]
rs13438699	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking 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	47 gene(s)	inside rSNPs	diseases
7	nsv1033096	chr7:32965040-33039206	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv3354398	chr7:32996277-32998775	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:32996000-32996800	Enhancers	Spleen	Spleen
2	chr7:32996000-32997000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr7:32996000-32997400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:32996000-32997600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:32996200-32997000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr7:32996200-32997200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:32996200-32997200	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr7:32996200-32997600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:32996200-32997600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:32996200-32997600	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:32996200-32997800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:32996200-32997800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr7:32996200-32997800	Active TSS	Hela-S3	cervix
14	chr7:32996200-32998000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:32996200-32998000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:32996200-32998000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:32996200-32998000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:32996200-32998000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr7:32996200-32998000	Active TSS	Fetal Lung	lung
20	chr7:32996200-32998000	Active TSS	NH-A	brain
21	chr7:32996200-32998200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:32996200-32998200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:32996200-32998200	Active TSS	Muscle Satellite Cultured Cells	--
24	chr7:32996200-32998200	Active TSS	HSMM	muscle
25	chr7:32996200-32998400	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:32996200-32998400	Active TSS	HSMMtube	muscle
27	chr7:32996200-32998600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:32996200-32998600	Active TSS	A549	lung
29	chr7:32996400-32996800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
30	chr7:32996400-32996800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr7:32996400-32996800	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr7:32996400-32996800	Flanking Active TSS	Placenta	Placenta
33	chr7:32996400-32996800	Active TSS	Right Atrium	heart
34	chr7:32996400-32996800	Flanking Active TSS	HMEC	breast
35	chr7:32996400-32997200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:32996400-32997600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr7:32996400-32997600	Active TSS	Brain Anterior Caudate	brain
38	chr7:32996400-32997600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:32996400-32997600	Active TSS	Stomach Smooth Muscle	stomach
40	chr7:32996400-32997800	Active TSS	Fetal Intestine Small	intestine
41	chr7:32996400-32997800	Active TSS	Fetal Stomach	stomach
42	chr7:32996400-32997800	Active TSS	HepG2	liver
43	chr7:32996400-32998000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:32996400-32998000	Active TSS	Colonic Mucosa	Colon
45	chr7:32996400-32998000	Active TSS	Fetal Intestine Large	intestine
46	chr7:32996400-32998000	Active TSS	Osteobl	bone
47	chr7:32996400-32998200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr7:32996400-32998200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:32996400-32998200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:32996400-32998400	Active TSS	Pancreatic Islets	Pancreatic Islet

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