Variant report

Variant	rs6974364
Chromosome Location	chr7:111842373-111842374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111839777..111843367-chr7:111843500..111847155,4	K562	blood:
2	chr7:111841545..111844388-chr7:111844769..111847639,3	MCF-7	breast:
3	chr7:111822388..111825191-chr7:111842170..111844760,2	K562	blood:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10233673	0.85[JPT][hapmap]
rs10240912	0.84[ASN][1000 genomes]
rs10266365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269050	0.86[YRI][hapmap]
rs10272126	0.80[CEU][hapmap]
rs10272188	0.90[CEU][hapmap]
rs10953710	0.84[CEU][hapmap]
rs10953711	0.84[CEU][hapmap]
rs11761807	0.81[CEU][hapmap]
rs11763588	0.80[CEU][hapmap]
rs11768608	0.80[CEU][hapmap]
rs11769219	0.80[CEU][hapmap]
rs11773393	0.84[CEU][hapmap]
rs11773464	0.81[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs12113634	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12154685	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12537746	0.81[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs12705816	0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12705817	0.81[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs13236012	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs16873374	0.80[CEU][hapmap]
rs17159389	0.80[CEU][hapmap]
rs2708600	0.81[JPT][hapmap]
rs2729563	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3807884	0.80[CEU][hapmap]
rs4132325	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4640999	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4727766	0.87[JPT][hapmap]
rs4730519	0.84[ASN][1000 genomes]
rs6955231	0.84[CEU][hapmap]
rs6966390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978767	0.88[JPT][hapmap]
rs6978927	0.80[CEU][hapmap]
rs736771	0.87[JPT][hapmap]
rs757195	0.95[CHB][hapmap];0.93[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789649	0.81[JPT][hapmap]
rs7790943	0.88[YRI][hapmap]
rs7792159	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795336	0.84[CEU][hapmap]
rs7811283	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs960348	0.85[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:111829200-111842600	Weak transcription	Psoas Muscle	Psoas
3	chr7:111831800-111842600	Weak transcription	Right Ventricle	heart
4	chr7:111832000-111842600	Weak transcription	Left Ventricle	heart
5	chr7:111836200-111843000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:111836200-111843000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:111836600-111843000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:111836600-111843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:111836800-111843000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:111836800-111843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:111836800-111843800	Weak transcription	Lung	lung
12	chr7:111838000-111842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:111838400-111843000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:111838600-111843200	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:111838600-111844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:111839000-111843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:111839200-111844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:111839600-111842800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:111839600-111844000	Weak transcription	HSMM	muscle
20	chr7:111839800-111843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:111840000-111842600	Weak transcription	Fetal Lung	lung
22	chr7:111840000-111843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:111840200-111842400	Weak transcription	Liver	Liver
24	chr7:111840200-111842400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:111840200-111842600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:111840200-111842800	Weak transcription	NHLF	lung
27	chr7:111840200-111843800	Weak transcription	Osteobl	bone
28	chr7:111840400-111844000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:111840800-111843000	Enhancers	Brain Hippocampus Middle	brain
30	chr7:111840800-111843800	Enhancers	Hela-S3	cervix
31	chr7:111841000-111843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:111841000-111843600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:111841000-111843800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:111841200-111843800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:111841400-111842400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:111841600-111842600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:111841600-111842600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:111841600-111842600	Weak transcription	HMEC	breast
39	chr7:111841600-111843000	Weak transcription	Ovary	ovary
40	chr7:111841600-111843000	Enhancers	NHEK	skin
41	chr7:111841600-111843800	Weak transcription	NH-A	brain
42	chr7:111841600-111844000	Weak transcription	Fetal Stomach	stomach
43	chr7:111841800-111842400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:111842000-111843000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:111842000-111843200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:111842000-111843600	Weak transcription	NHDF-Ad	bronchial
47	chr7:111842200-111843000	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:111842200-111843000	Enhancers	HepG2	liver
49	chr7:111842200-111843800	Enhancers	A549	lung
50	chr7:111842200-111843800	Flanking Active TSS	HUVEC	blood vessel

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