Variant report

Variant	rs6974047
Chromosome Location	chr7:6307126-6307127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6298757..6301475-chr7:6305303..6307556,2	MCF-7	breast:
2	chr7:6306666..6309217-chr7:6522302..6523810,2	K562	blood:
3	chr7:6307014..6308787-chr7:6412826..6414965,2	K562	blood:
4	chr7:6302141..6304166-chr7:6305919..6307712,2	K562	blood:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1017035	1.00[ASN][1000 genomes]
rs1101167	1.00[ASN][1000 genomes]
rs11771806	1.00[ASN][1000 genomes]
rs12702495	1.00[ASN][1000 genomes]
rs12702498	1.00[ASN][1000 genomes]
rs13229191	1.00[ASN][1000 genomes]
rs35776691	1.00[ASN][1000 genomes]
rs4724785	1.00[ASN][1000 genomes]
rs556718	1.00[ASN][1000 genomes]
rs56242997	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784130	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:6296800-6308400	Weak transcription	HMEC	breast
3	chr7:6298400-6308600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:6299000-6310400	Weak transcription	Primary B cells from cord blood	blood
5	chr7:6299200-6310600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:6300200-6308600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:6300200-6310200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:6300400-6307600	Weak transcription	Pancreas	Pancrea
9	chr7:6300400-6308400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:6300400-6308600	Weak transcription	Aorta	Aorta
11	chr7:6300400-6310400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:6300600-6308600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:6300600-6310200	Weak transcription	Fetal Kidney	kidney
14	chr7:6300600-6310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:6300800-6308600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:6301000-6308200	Weak transcription	Fetal Lung	lung
17	chr7:6301000-6309000	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:6301200-6308800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:6301200-6310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:6301200-6310400	Weak transcription	Colonic Mucosa	Colon
21	chr7:6302000-6310200	Weak transcription	NH-A	brain
22	chr7:6302200-6308400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:6302400-6310400	Weak transcription	Fetal Stomach	stomach
24	chr7:6302600-6308600	Weak transcription	NHLF	lung
25	chr7:6302600-6308800	Weak transcription	HSMM	muscle
26	chr7:6302600-6308800	Weak transcription	HSMMtube	muscle
27	chr7:6302600-6310200	Weak transcription	Osteobl	bone
28	chr7:6302800-6308600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:6303200-6308400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:6303200-6308600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:6303200-6308600	Weak transcription	Adipose Nuclei	Adipose
32	chr7:6303400-6308400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:6303400-6308600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:6303400-6308600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:6303400-6308600	Weak transcription	NHDF-Ad	bronchial
36	chr7:6304800-6308200	Weak transcription	Fetal Heart	heart
37	chr7:6304800-6308600	Weak transcription	Right Ventricle	heart
38	chr7:6304800-6310400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:6305000-6308600	Weak transcription	Spleen	Spleen
40	chr7:6305400-6308600	Weak transcription	Ovary	ovary
41	chr7:6305800-6309200	Enhancers	Psoas Muscle	Psoas
42	chr7:6306000-6308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:6306200-6309400	Enhancers	Placenta	Placenta
44	chr7:6306400-6308400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:6306600-6308600	Enhancers	Duodenum Mucosa	Duodenum
46	chr7:6306800-6307200	ZNF genes & repeats	A549	lung
47	chr7:6306800-6307400	Enhancers	Fetal Intestine Large	intestine
48	chr7:6306800-6308200	Weak transcription	Stomach Mucosa	stomach
49	chr7:6306800-6308200	Weak transcription	K562	blood
50	chr7:6306800-6308400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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