Variant report

Variant	rs71531373
Chromosome Location	chr7:6310987-6310988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6310725..6312409-chr7:6412991..6414709,2	K562	blood:
2	chr7:6214344..6218044-chr7:6310010..6312416,3	MCF-7	breast:
3	chr7:6206063..6207710-chr7:6310368..6312250,2	MCF-7	breast:
4	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
5	chr7:6217036..6219726-chr7:6310745..6313246,2	K562	blood:

Variant related genes	Relation type
ENSG00000238534	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000008256	Chromatin interaction
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10245186	0.92[EUR][1000 genomes]
rs10263878	0.92[EUR][1000 genomes]
rs10270609	0.92[EUR][1000 genomes]
rs11976961	0.87[EUR][1000 genomes]
rs13237896	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34073302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34312608	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34904930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34939060	0.85[EUR][1000 genomes]
rs35257722	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35372475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35402521	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35868999	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35882223	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35934233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6463535	0.82[EUR][1000 genomes]
rs6955065	0.92[EUR][1000 genomes]
rs6961095	0.92[EUR][1000 genomes]
rs6962767	0.82[EUR][1000 genomes]
rs6969814	0.82[EUR][1000 genomes]
rs71531366	0.87[EUR][1000 genomes]
rs71531367	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71531368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71531370	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71531372	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71549618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7777433	0.89[EUR][1000 genomes]
rs7780702	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7783827	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7791225	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
16	nsv538715	chr7:6308902-6359025	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1020251	chr7:6309528-6379941	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6309800-6311400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:6309800-6312600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:6310200-6311400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr7:6310200-6311600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:6310200-6311600	Flanking Active TSS	K562	blood
6	chr7:6310200-6312600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:6310400-6311000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:6310400-6311000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
9	chr7:6310400-6311000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:6310400-6311000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:6310400-6311000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr7:6310400-6311000	Flanking Active TSS	Fetal Intestine Large	intestine
13	chr7:6310400-6311000	Flanking Active TSS	Placenta	Placenta
14	chr7:6310400-6311200	Active TSS	Colonic Mucosa	Colon
15	chr7:6310400-6311200	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr7:6310400-6311400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:6310400-6311400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:6310400-6311400	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr7:6310400-6311400	Flanking Active TSS	NHEK	skin
20	chr7:6310400-6311400	Flanking Active TSS	Osteobl	bone
21	chr7:6310400-6311600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:6310400-6311600	Flanking Active TSS	Fetal Brain Female	brain
23	chr7:6310400-6311600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:6310400-6311600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr7:6310400-6311600	Flanking Active TSS	NH-A	brain
26	chr7:6310400-6311800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:6310400-6311800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:6310400-6311800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr7:6310400-6311800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:6310400-6311800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:6310400-6311800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr7:6310400-6311800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:6310400-6311800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr7:6310400-6312000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:6310400-6312400	Active TSS	Brain Anterior Caudate	brain
36	chr7:6310400-6312400	Active TSS	Right Atrium	heart
37	chr7:6310400-6312600	Active TSS	Brain Cingulate Gyrus	brain
38	chr7:6310400-6312600	Active TSS	Brain Substantia Nigra	brain
39	chr7:6310400-6312600	Active TSS	Ovary	ovary
40	chr7:6310400-6312800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr7:6310400-6312800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:6310400-6312800	Active TSS	Aorta	Aorta
43	chr7:6310400-6312800	Active TSS	HSMMtube	muscle
44	chr7:6310600-6311000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:6310600-6311000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:6310600-6311000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:6310600-6311000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr7:6310600-6311000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr7:6310600-6311000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:6310600-6311000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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