Variant report

Variant	rs10230017
Chromosome Location	chr7:97738489-97738490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97737661..97739310-chr7:97740344..97742596,2	MCF-7	breast:
2	chr7:97733859..97737866-chr7:97738343..97741740,8	K562	blood:
3	chr7:97737823..97740365-chr7:97743059..97746026,2	K562	blood:
4	chr7:97737313..97739536-chr7:97747241..97749393,2	K562	blood:

Variant related genes	Relation type
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10246861	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980911	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16869462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97737000-97745200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:97737000-97746200	Weak transcription	Spleen	Spleen
3	chr7:97737200-97738600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:97737200-97738800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:97737200-97739000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:97737200-97739200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:97737200-97741800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:97737200-97741800	Weak transcription	Lung	lung
9	chr7:97737200-97745600	Weak transcription	Gastric	stomach
10	chr7:97737200-97746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:97737200-97762400	Weak transcription	Aorta	Aorta
12	chr7:97737200-97764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:97737400-97738600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:97737400-97738600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:97737400-97739400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:97737400-97741800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:97737400-97743400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:97737400-97744400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:97737600-97739000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:97737600-97739000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:97737600-97739600	Weak transcription	Brain Germinal Matrix	brain
22	chr7:97737600-97739800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr7:97737600-97740800	Weak transcription	Pancreas	Pancrea
24	chr7:97737600-97741400	Enhancers	Fetal Intestine Large	intestine
25	chr7:97737600-97741600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:97737600-97754400	Weak transcription	HSMMtube	muscle
27	chr7:97737600-97762400	Weak transcription	Small Intestine	intestine
28	chr7:97737800-97738600	Enhancers	Primary T cells from cord blood	blood
29	chr7:97737800-97738600	Weak transcription	Colonic Mucosa	Colon
30	chr7:97737800-97738800	Enhancers	Dnd41	blood
31	chr7:97737800-97739200	Weak transcription	Ovary	ovary
32	chr7:97737800-97739400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:97737800-97739400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:97737800-97739600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:97737800-97739600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:97737800-97739800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:97737800-97740400	Weak transcription	Psoas Muscle	Psoas
38	chr7:97737800-97741000	Enhancers	Fetal Intestine Small	intestine
39	chr7:97737800-97741200	Enhancers	Fetal Brain Male	brain
40	chr7:97737800-97743600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:97737800-97745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:97737800-97748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:97737800-97749400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:97737800-97751000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:97737800-97759600	Weak transcription	Right Ventricle	heart
46	chr7:97737800-97760800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:97737800-97767000	Weak transcription	Fetal Stomach	stomach
48	chr7:97738000-97738800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:97738000-97738800	Weak transcription	Fetal Brain Female	brain
50	chr7:97738000-97738800	Weak transcription	Rectal Mucosa Donor 29	rectum

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