Variant report

Variant	rs41281063
Chromosome Location	chr7:111977462-111977463
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	REST	chr7:111976957-111977725	H1-neurons	neurons:	n/a	n/a
2	TEAD4	chr7:111977190-111977684	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr7:111977293-111977594	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111975441..111977682-chr7:111980035..111981752,2	MCF-7	breast:

Variant related genes	Relation type
ZNF277	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10238141	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10247876	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10272126	0.82[AMR][1000 genomes]
rs10272188	0.82[AMR][1000 genomes]
rs10953708	0.83[ASN][1000 genomes]
rs10953709	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10953710	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10953711	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11761567	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11762497	0.80[ASN][1000 genomes]
rs11763356	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763768	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11767115	0.84[ASN][1000 genomes]
rs11768608	0.83[ASN][1000 genomes]
rs11768793	0.83[ASN][1000 genomes]
rs11768891	0.83[ASN][1000 genomes]
rs11769219	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11773393	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12666261	0.83[ASN][1000 genomes]
rs12666911	0.83[ASN][1000 genomes]
rs12668065	0.80[ASN][1000 genomes]
rs12673259	0.83[ASN][1000 genomes]
rs12673830	0.83[ASN][1000 genomes]
rs13230061	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16873374	0.80[ASN][1000 genomes]
rs17159446	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1985929	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301725	0.91[EUR][1000 genomes]
rs2520471	0.83[ASN][1000 genomes]
rs2520473	0.83[ASN][1000 genomes]
rs2523029	0.87[ASN][1000 genomes]
rs2523030	0.90[ASN][1000 genomes]
rs2523035	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2523037	0.91[ASN][1000 genomes]
rs2523038	0.91[ASN][1000 genomes]
rs2523039	0.91[ASN][1000 genomes]
rs2523041	0.91[ASN][1000 genomes]
rs2708588	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2708590	0.87[ASN][1000 genomes]
rs2708592	0.84[ASN][1000 genomes]
rs2708594	0.84[ASN][1000 genomes]
rs2708595	0.90[ASN][1000 genomes]
rs2708597	0.83[ASN][1000 genomes]
rs2708598	0.83[ASN][1000 genomes]
rs2708603	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2708604	0.91[ASN][1000 genomes]
rs2708605	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34171150	0.84[ASN][1000 genomes]
rs3807884	0.80[ASN][1000 genomes]
rs3823515	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730516	0.81[ASN][1000 genomes]
rs4730517	0.81[ASN][1000 genomes]
rs55662318	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55915049	0.82[ASN][1000 genomes]
rs56299150	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56675883	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56969420	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60445595	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6955231	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6955623	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6978927	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7781245	0.81[ASN][1000 genomes]
rs7792130	0.81[ASN][1000 genomes]
rs7795336	0.83[ASN][1000 genomes]
rs9641480	0.83[ASN][1000 genomes]
rs9641481	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
3	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
5	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
8	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:111957400-111980200	Weak transcription	NHDF-Ad	bronchial
12	chr7:111957800-111980200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:111959000-111982400	Weak transcription	HUVEC	blood vessel
15	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
17	chr7:111961800-111986000	Weak transcription	K562	blood
18	chr7:111962000-111978800	Weak transcription	HSMM	muscle
19	chr7:111962200-111978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:111962200-111982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:111962400-111977800	Weak transcription	Psoas Muscle	Psoas
22	chr7:111963600-111980200	Weak transcription	A549	lung
23	chr7:111963600-111980800	Weak transcription	NHEK	skin
24	chr7:111963800-111984400	Weak transcription	HMEC	breast
25	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:111965400-111980000	Weak transcription	Brain Substantia Nigra	brain
27	chr7:111965600-111980200	Weak transcription	Brain Anterior Caudate	brain
28	chr7:111965800-111977800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:111965800-111978200	Weak transcription	Left Ventricle	heart
30	chr7:111965800-111980200	Weak transcription	Placenta	Placenta
31	chr7:111965800-111981800	Weak transcription	Colonic Mucosa	Colon
32	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
34	chr7:111966000-111977800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:111966000-111981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:111966000-111983200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:111966000-111985800	Weak transcription	Spleen	Spleen
38	chr7:111966000-111989600	Weak transcription	Gastric	stomach
39	chr7:111966400-111977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:111966400-111977800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:111966400-111981000	Weak transcription	Ovary	ovary
42	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
43	chr7:111966600-111977800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:111966600-111978000	Weak transcription	Thymus	Thymus
45	chr7:111966600-111981000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:111966600-111981600	Weak transcription	Fetal Stomach	stomach
47	chr7:111966600-111984800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:111966600-111989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:111967600-111978000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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