Variant report

Variant	rs3810883
Chromosome Location	chr7:86850543-86850544
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	GATA3	chr7:86848588-86850660	MCF-7	breast:	n/a	chr7:86849040-86849050
2	RFX5	chr7:86848853-86850782	IMR90	lung:	n/a	n/a
3	SMARCC1	chr7:86848020-86850642	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr7:86850085-86850611	HepG2	liver:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
5	RELA	chr7:86847292-86850571	GM18951	blood:	n/a	n/a
6	USF2	chr7:86849995-86850751	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr7:86848320-86850548	MCF-7	breast:	n/a	n/a
8	HA-E2F1	chr7:86848233-86850702	MCF-7	breast:	n/a	chr7:86849668-86849675 chr7:86849667-86849675 chr7:86849402-86849414 chr7:86849662-86849671 chr7:86849666-86849676 chr7:86849665-86849676 chr7:86848579-86848588 chr7:86849667-86849675
9	MAX	chr7:86848495-86850709	MCF-7	breast:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
10	MAFK	chr7:86849801-86850618	Hela-S3	cervix:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
11	MAFF	chr7:86849963-86850960	K562	blood:	n/a	chr7:86850322-86850336 chr7:86850316-86850334
12	MAX	chr7:86849661-86850564	HepG2	liver:	n/a	chr7:86850066-86850076 chr7:86849873-86849883
13	MAFK	chr7:86849652-86851128	GM12878	blood:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
14	SIN3AK20	chr7:86848245-86850778	MCF-7	breast:	n/a	n/a
15	MAX	chr7:86848478-86850552	HepG2	liver:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
16	MAFF	chr7:86850011-86850554	HepG2	liver:	n/a	chr7:86850322-86850336 chr7:86850316-86850334
17	HDAC2	chr7:86849536-86850576	MCF-7	breast:	n/a	n/a
18	MAFK	chr7:86849984-86850732	K562	blood:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
19	MXI1	chr7:86847424-86850672	IMR90	lung:	n/a	chr7:86850067-86850076
20	MAFK	chr7:86849937-86850858	HepG2	liver:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
21	MYC	chr7:86848430-86850723	Hela-S3	cervix:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
22	MAX	chr7:86848565-86850616	HepG2	liver:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
23	MAFK	chr7:86849885-86850588	IMR90	lung:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
24	MXI1	chr7:86848070-86851253	SK-N-SH	brain:	n/a	chr7:86850067-86850076
25	MAX	chr7:86848834-86850770	Hela-S3	cervix:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:86850525-86850575	H1-hESC	embryonic stem cell:	embryo
2	chr7:86850498-86850548	HAEpiC	amniotic membrane:	n/a
3	chr7:86850498-86850548	MCF-7	breast:	n/a
4	chr7:86850525-86850575	NHDF-neo	bronchial:	n/a
5	chr7:86850525-86850575	HepG2	liver:	n/a
6	chr7:86850498-86850548	SK-N-SH_RA	brain:	n/a
7	chr7:86850525-86850575	AG04450	lung:	fetal
8	chr7:86850498-86850548	HRPEpiC	eye:	n/a
9	chr7:86850498-86850548	NH-A	brain:	n/a
10	chr7:86850525-86850575	Hela-S3	cervix:	n/a
11	chr7:86850498-86850548	HCF	heart:	n/a
12	chr7:86850498-86850548	AG04449	skin:	fetal
13	chr7:86850525-86850575	BE2_C	brain:	n/a
14	chr7:86850498-86850548	CMK	blood:	n/a
15	chr7:86850498-86850548	T-47D	breast:	n/a
16	chr7:86850525-86850575	SKMC	muscle:	n/a
17	chr7:86850498-86850548	HRE	kidney:	n/a
18	chr7:86850498-86850548	AG09309	skin:	n/a
19	chr7:86850498-86850548	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:86850525-86850575	AG10803	skin:	n/a
21	chr7:86850525-86850575	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:86850525-86850575	GM12892	blood:	n/a
23	chr7:86850525-86850575	T-47D	breast:	n/a
24	chr7:86850498-86850548	HCPEpiC	choroid plexus:	n/a
25	chr7:86850498-86850548	AG09319	gingival:	n/a
26	chr7:86850498-86850548	Hepatocyte	liver:	n/a
27	chr7:86850498-86850548	HL-60	blood:	n/a
28	chr7:86850525-86850575	SK-N-MC	brain:	n/a
29	chr7:86850498-86850548	AG04450	lung:	fetal
30	chr7:86850498-86850548	GM12892	blood:	n/a
31	chr7:86850525-86850575	NT2-D1	testis:	n/a
32	chr7:86850525-86850575	AG09309	skin:	n/a
33	chr7:86850525-86850575	HUVEC	blood vessel:	n/a
34	chr7:86850525-86850575	NHBE	bronchial:	n/a
35	chr7:86850498-86850548	PANC-1	pancreas:	n/a
36	chr7:86850498-86850548	PrEC	prostate:	n/a
37	chr7:86850525-86850575	GM06990	blood:	n/a
38	chr7:86850498-86850548	IMR90	lung:	fetal
39	chr7:86850525-86850575	AoSMC	blood vessel:	n/a
40	chr7:86850498-86850548	BE2_C	brain:	n/a
41	chr7:86850525-86850575	HAEpiC	amniotic membrane:	n/a
42	chr7:86850525-86850575	ECC-1	luminal epithelium:	n/a
43	chr7:86850525-86850575	Jurkat	blood:	n/a
44	chr7:86850498-86850548	HEEpiC	esophagus:	n/a
45	chr7:86850525-86850575	HRPEpiC	eye:	n/a
46	chr7:86850498-86850548	GM12891	blood:	n/a
47	chr7:86850525-86850575	LNCaP	prostate:	n/a
48	chr7:86850498-86850548	NHDF-neo	bronchial:	n/a
49	chr7:86850525-86850575	GM19239	blood:	n/a
50	chr7:86850498-86850548	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86780325..86782925-chr7:86850023..86852985,2	K562	blood:
2	chr7:86780355..86788679-chr7:86845137..86851399,15	MCF-7	breast:
3	chr7:86778653..86785496-chr7:86845746..86851349,11	MCF-7	breast:
4	chr7:86828530..86830093-chr7:86847651..86850923,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200397	TF binding region
TMEM243	TF binding region
TMEM243	CpG island
ENSG00000200397	CpG island
ENSG00000224046	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000135185	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1011952	0.87[EUR][1000 genomes]
rs1011953	0.88[EUR][1000 genomes]
rs10245036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263920	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10273826	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1058972	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1558050	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1574795	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2106955	0.88[EUR][1000 genomes]
rs2286267	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4236504	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4728685	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4728688	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4728690	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6465099	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6465100	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6942878	0.88[EUR][1000 genomes]
rs6952842	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6957785	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6966613	1.00[JPT][hapmap]
rs6975175	0.95[EUR][1000 genomes]
rs6978590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs757159	1.00[CEU][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes]
rs769156	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7776634	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7792031	0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7793356	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7800541	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86847400-86850600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:86847400-86850600	Active TSS	Brain Anterior Caudate	brain
3	chr7:86847400-86850800	Active TSS	NHLF	lung
4	chr7:86847600-86850600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:86847600-86850600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:86847600-86850800	Active TSS	Aorta	Aorta
7	chr7:86847800-86850600	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:86847800-86850800	Active TSS	Ovary	ovary
9	chr7:86849200-86850600	Flanking Active TSS	Liver	Liver
10	chr7:86849400-86850600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:86849600-86850600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr7:86849800-86850600	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr7:86850000-86850600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:86850000-86850600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:86850000-86850600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr7:86850000-86850600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr7:86850000-86850600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:86850000-86850600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:86850000-86850600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:86850000-86850600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:86850000-86850600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:86850000-86850600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:86850000-86850600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:86850000-86850600	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr7:86850000-86850600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr7:86850000-86850600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
27	chr7:86850000-86850600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr7:86850000-86850600	Flanking Active TSS	Fetal Lung	lung
29	chr7:86850000-86850600	Flanking Active TSS	Fetal Stomach	stomach
30	chr7:86850000-86850600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:86850000-86850600	Active TSS	Right Atrium	heart
32	chr7:86850000-86850600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:86850000-86850600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr7:86850000-86850600	Enhancers	Spleen	Spleen
35	chr7:86850000-86850600	Flanking Active TSS	HMEC	breast
36	chr7:86850000-86850600	Flanking Active TSS	HSMM	muscle
37	chr7:86850000-86850600	Flanking Active TSS	HSMMtube	muscle
38	chr7:86850000-86850600	Flanking Bivalent TSS/Enh	K562	blood
39	chr7:86850000-86850600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr7:86850000-86850600	Flanking Active TSS	NHEK	skin
41	chr7:86850000-86850600	Flanking Active TSS	Osteobl	bone
42	chr7:86850000-86850800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:86850000-86850800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr7:86850000-86850800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr7:86850000-86850800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr7:86850000-86850800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:86850000-86850800	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr7:86850000-86850800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr7:86850000-86850800	Flanking Active TSS	Hela-S3	cervix
50	chr7:86850200-86850600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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