Variant report

Variant	rs7031978
Chromosome Location	chr9:7172630-7172631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7166311..7168822-chr9:7171544..7173706,2	K562	blood:
2	chr9:7169706..7171250-chr9:7171522..7173272,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10115707	1.00[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes]
rs10117886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10976082	0.86[ASW][hapmap]
rs12006038	1.00[EUR][1000 genomes]
rs2494243	1.00[AMR][1000 genomes]
rs2770723	1.00[AMR][1000 genomes]
rs3829103	0.80[LWK][hapmap]
rs56722787	1.00[EUR][1000 genomes]
rs57818601	1.00[EUR][1000 genomes]
rs57947810	1.00[EUR][1000 genomes]
rs58007053	1.00[EUR][1000 genomes]
rs58150847	1.00[EUR][1000 genomes]
rs59153482	1.00[EUR][1000 genomes]
rs61034568	1.00[EUR][1000 genomes]
rs61081634	1.00[EUR][1000 genomes]
rs61147945	1.00[EUR][1000 genomes]
rs61485848	1.00[EUR][1000 genomes]
rs73639883	1.00[EUR][1000 genomes]
rs7850737	1.00[EUR][1000 genomes]
rs7864566	1.00[EUR][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	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS 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 miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892191	chr9:7150997-7173752	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv892192	chr9:7153009-7257340	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv528873	chr9:7163530-7177936	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7147400-7174600	Weak transcription	NHEK	skin
2	chr9:7148600-7185400	Weak transcription	HMEC	breast
3	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:7149800-7172800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:7150400-7175800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:7150800-7172800	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:7151200-7173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
10	chr9:7154400-7174400	Weak transcription	Aorta	Aorta
11	chr9:7160800-7174400	Weak transcription	Fetal Stomach	stomach
12	chr9:7160800-7175200	Strong transcription	Primary B cells from cord blood	blood
13	chr9:7160800-7182000	Weak transcription	Dnd41	blood
14	chr9:7162600-7181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr9:7162600-7182200	Weak transcription	Small Intestine	intestine
16	chr9:7163200-7172800	Weak transcription	Right Ventricle	heart
17	chr9:7163200-7177800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr9:7163400-7180600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr9:7163800-7179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr9:7164000-7174600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:7164000-7176200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr9:7164600-7178000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr9:7165800-7174600	Weak transcription	Ovary	ovary
24	chr9:7165800-7176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:7165800-7179400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr9:7165800-7183800	Weak transcription	Esophagus	oesophagus
27	chr9:7165800-7185400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:7166000-7175600	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:7166200-7181000	Weak transcription	Hela-S3	cervix
30	chr9:7166400-7173600	Weak transcription	Spleen	Spleen
31	chr9:7166400-7174600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:7166400-7176800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:7167200-7185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:7167600-7174400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:7168000-7174600	Weak transcription	Pancreas	Pancrea
36	chr9:7168200-7176400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:7169200-7173400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr9:7169200-7183000	Strong transcription	Primary T cells from cord blood	blood
39	chr9:7169400-7173800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr9:7169400-7176600	Strong transcription	Fetal Intestine Large	intestine
41	chr9:7169600-7173000	Strong transcription	Liver	Liver
42	chr9:7169600-7173000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr9:7169600-7173200	Strong transcription	GM12878-XiMat	blood
44	chr9:7169600-7175000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:7169600-7176400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr9:7169600-7176600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr9:7169600-7176800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:7169800-7173000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr9:7169800-7173000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr9:7169800-7173400	Strong transcription	Fetal Thymus	thymus

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