Variant report

Variant	rs36081491
Chromosome Location	chr7:97737088-97737089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97736360..97738487-chr7:97758409..97762337,3	K562	blood:
2	chr7:97735652..97737286-chr7:97753750..97756683,2	MCF-7	breast:
3	chr7:97721025..97723015-chr7:97736294..97738071,2	MCF-7	breast:
4	chr20:48807269..48810011-chr7:97735604..97737144,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172216	Chromatin interaction
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10215577	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216274	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10230846	0.80[ASN][1000 genomes]
rs10231625	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232153	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241172	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243993	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252338	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10256262	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261777	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270280	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276472	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282640	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12333559	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12704966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12704976	0.82[ASN][1000 genomes]
rs13221415	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13221480	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13228463	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13228540	0.88[EUR][1000 genomes]
rs13241860	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532381	0.84[ASN][1000 genomes]
rs17169317	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169328	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169330	0.87[ASN][1000 genomes]
rs28415802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681561	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34320281	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35428901	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3735252	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465655	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958785	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73404186	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788997	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951987	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv3411371	chr7:97735041-97737589	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97735400-97737400	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:97735600-97737200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:97735600-97737400	Active TSS	Brain Germinal Matrix	brain
4	chr7:97735800-97737200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:97735800-97737200	Active TSS	Esophagus	oesophagus
6	chr7:97735800-97737200	Active TSS	Fetal Kidney	kidney
7	chr7:97735800-97737400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:97735800-97737400	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr7:97735800-97737400	Active TSS	Thymus	Thymus
10	chr7:97735800-97738000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:97735800-97738000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:97735800-97738000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:97735800-97738000	Active TSS	Brain Angular Gyrus	brain
14	chr7:97736000-97737200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:97736000-97737200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:97736000-97737200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:97736000-97737200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:97736000-97737200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:97736000-97737200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:97736000-97737200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:97736000-97737200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:97736000-97737200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:97736000-97737200	Active TSS	Fetal Brain Female	brain
24	chr7:97736000-97737200	Active TSS	Fetal Muscle Trunk	muscle
25	chr7:97736000-97737200	Active TSS	Lung	lung
26	chr7:97736000-97737200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:97736000-97737200	Active TSS	Hela-S3	cervix
28	chr7:97736000-97737400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:97736000-97737400	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:97736000-97737400	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr7:97736000-97737400	Active TSS	A549	lung
32	chr7:97736000-97737400	Active TSS	HMEC	breast
33	chr7:97736000-97737400	Active TSS	HSMM	muscle
34	chr7:97736000-97737400	Active TSS	NHEK	skin
35	chr7:97736000-97737600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:97736000-97737600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr7:97736000-97737600	Active TSS	Brain Cingulate Gyrus	brain
38	chr7:97736000-97737600	Active TSS	Pancreas	Pancrea
39	chr7:97736000-97737600	Active TSS	HSMMtube	muscle
40	chr7:97736000-97737600	Active TSS	NHLF	lung
41	chr7:97736000-97737800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:97736000-97737800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:97736000-97737800	Active TSS	Brain Anterior Caudate	brain
44	chr7:97736000-97737800	Active TSS	Colonic Mucosa	Colon
45	chr7:97736000-97737800	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:97736000-97737800	Active TSS	Right Ventricle	heart
47	chr7:97736000-97738000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr7:97736000-97738000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:97736000-97738200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:97736200-97737200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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