Variant report

Variant	rs6974361
Chromosome Location	chr7:138566937-138566938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138565143..138567415-chr7:138569236..138571035,3	MCF-7	breast:
2	chr7:138562956..138565840-chr7:138566866..138569129,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10249247	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10252467	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10261424	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10261559	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10278730	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10954634	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12114019	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34717241	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34851167	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6961366	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968792	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6972391	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6974263	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6979589	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
2	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
3	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
5	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:138542600-138568400	Weak transcription	HepG2	liver
7	chr7:138543000-138569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
9	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:138546200-138569400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:138546200-138571400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
13	chr7:138553000-138592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:138554200-138581600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:138554400-138574800	Weak transcription	Esophagus	oesophagus
16	chr7:138555400-138575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:138555600-138578800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:138556200-138575400	Weak transcription	Ovary	ovary
19	chr7:138556200-138578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:138558600-138575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:138558600-138575600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:138561200-138569000	Strong transcription	Fetal Stomach	stomach
23	chr7:138561400-138567200	Strong transcription	HSMMtube	muscle
24	chr7:138561400-138583000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:138561600-138567000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:138561600-138571000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:138561600-138572600	Weak transcription	A549	lung
28	chr7:138561800-138571200	Weak transcription	Osteobl	bone
29	chr7:138561800-138574200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:138561800-138577200	Weak transcription	HSMM	muscle
31	chr7:138562000-138567000	Weak transcription	Dnd41	blood
32	chr7:138562000-138575000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:138562000-138598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:138562000-138598200	Weak transcription	HMEC	breast
35	chr7:138562200-138571400	Weak transcription	NHEK	skin
36	chr7:138562600-138580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:138563000-138568400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:138566000-138567000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:138566000-138567000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:138566000-138571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:138566000-138571200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:138566000-138574600	Weak transcription	Fetal Lung	lung
43	chr7:138566000-138574800	Weak transcription	Placenta	Placenta
44	chr7:138566000-138575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:138566000-138583600	Weak transcription	Lung	lung
46	chr7:138566200-138567000	Genic enhancers	Brain Germinal Matrix	brain
47	chr7:138566200-138567200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:138566200-138567800	Enhancers	Fetal Thymus	thymus
49	chr7:138566200-138570400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:138566200-138571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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