Variant report

Variant	rs73155171
Chromosome Location	chr2:9879137-9879138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9877832..9879411-chrX:76718203..76719726,2	K562	blood:
2	chr2:9877830..9880619-chr2:9884575..9886353,2	MCF-7	breast:
3	chr2:9877856..9880099-chr2:9889992..9892399,2	K562	blood:
4	chr2:9877832..9879861-chr2:9884355..9886742,3	K562	blood:
5	chr2:9871478..9874528-chr2:9876144..9879356,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1004488	1.00[EUR][1000 genomes]
rs10185303	1.00[EUR][1000 genomes]
rs10188428	1.00[EUR][1000 genomes]
rs10200454	1.00[EUR][1000 genomes]
rs10208526	1.00[EUR][1000 genomes]
rs10469619	1.00[EUR][1000 genomes]
rs11685143	1.00[EUR][1000 genomes]
rs11900302	1.00[EUR][1000 genomes]
rs11901478	1.00[EUR][1000 genomes]
rs13392859	1.00[EUR][1000 genomes]
rs13392861	1.00[EUR][1000 genomes]
rs13417294	1.00[EUR][1000 genomes]
rs13420034	1.00[EUR][1000 genomes]
rs16867063	1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs16867145	1.00[EUR][1000 genomes]
rs4327210	1.00[EUR][1000 genomes]
rs56832685	1.00[EUR][1000 genomes]
rs57119165	1.00[EUR][1000 genomes]
rs58377484	1.00[EUR][1000 genomes]
rs59042599	1.00[EUR][1000 genomes]
rs59457002	1.00[EUR][1000 genomes]
rs60115192	1.00[EUR][1000 genomes]
rs73164230	1.00[EUR][1000 genomes]
rs73164231	1.00[EUR][1000 genomes]
rs73164234	1.00[EUR][1000 genomes]
rs73164238	1.00[EUR][1000 genomes]
rs73164239	1.00[EUR][1000 genomes]
rs73164242	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription 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	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9875000-9879200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:9875000-9879200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:9875000-9879400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:9875000-9879400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:9875200-9879400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:9875200-9879400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:9875400-9879200	Enhancers	Primary T cells from cord blood	blood
8	chr2:9875800-9879200	Weak transcription	Esophagus	oesophagus
9	chr2:9877000-9879200	Enhancers	Fetal Muscle Leg	muscle
10	chr2:9877400-9885000	Weak transcription	HMEC	breast
11	chr2:9877800-9880200	Enhancers	Fetal Heart	heart
12	chr2:9878200-9879200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:9878200-9879200	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:9878200-9879400	Enhancers	Fetal Thymus	thymus
15	chr2:9878200-9880200	Enhancers	Fetal Lung	lung
16	chr2:9878400-9879200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:9878400-9879200	Enhancers	Adipose Nuclei	Adipose
18	chr2:9878400-9879200	Enhancers	Psoas Muscle	Psoas
19	chr2:9878400-9879200	Enhancers	NHDF-Ad	bronchial
20	chr2:9878400-9879400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:9878400-9879400	Enhancers	Hela-S3	cervix
22	chr2:9878400-9879600	Enhancers	Placenta	Placenta
23	chr2:9878400-9879600	Enhancers	Right Ventricle	heart
24	chr2:9878400-9879600	Enhancers	K562	blood
25	chr2:9878400-9880000	Enhancers	Lung	lung
26	chr2:9878400-9880000	Enhancers	GM12878-XiMat	blood
27	chr2:9878400-9880200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:9878400-9881400	Enhancers	Left Ventricle	heart
29	chr2:9878600-9879200	Enhancers	Fetal Intestine Large	intestine
30	chr2:9878600-9879200	Enhancers	Fetal Intestine Small	intestine
31	chr2:9878600-9879200	Enhancers	Fetal Stomach	stomach
32	chr2:9878600-9879200	Enhancers	HSMM	muscle
33	chr2:9878600-9879400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:9878600-9880000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:9878600-9880200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:9878800-9879200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:9878800-9879200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:9878800-9879200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:9878800-9879200	Enhancers	Colon Smooth Muscle	Colon
40	chr2:9878800-9879200	Enhancers	Thymus	Thymus
41	chr2:9878800-9879400	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:9878800-9879400	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:9878800-9879400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:9878800-9879400	Enhancers	Brain Hippocampus Middle	brain
45	chr2:9878800-9879400	Enhancers	NHLF	lung
46	chr2:9878800-9879600	Enhancers	Small Intestine	intestine
47	chr2:9878800-9880000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:9878800-9880000	Enhancers	Spleen	Spleen
49	chr2:9878800-9880200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:9878800-9880200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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