Variant report

Variant	rs2356940
Chromosome Location	chr4:147180527-147180528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147173157..147178069-chr4:147179636..147183576,5	MCF-7	breast:
2	chr4:147152370..147155197-chr4:147179025..147181939,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11947781	0.80[YRI][hapmap]
rs13138596	0.87[JPT][hapmap]
rs13143634	0.84[YRI][hapmap]
rs13147524	0.82[JPT][hapmap]
rs1905958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357076	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs6537407	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6828612	0.85[CEU][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs6857911	0.81[ASW][hapmap];0.92[YRI][hapmap]
rs9784437	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147165400-147181600	Weak transcription	Small Intestine	intestine
5	chr4:147166000-147181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:147166800-147181800	Weak transcription	Esophagus	oesophagus
8	chr4:147166800-147181800	Weak transcription	Gastric	stomach
9	chr4:147166800-147186400	Weak transcription	Spleen	Spleen
10	chr4:147166800-147187200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:147166800-147190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
13	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
14	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:147167400-147185800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:147167400-147209000	Weak transcription	Ovary	ovary
17	chr4:147167800-147188600	Weak transcription	Pancreas	Pancrea
18	chr4:147170000-147196400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:147172600-147184600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:147174400-147181600	Weak transcription	Placenta	Placenta
22	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:147175000-147196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:147175600-147184200	Weak transcription	K562	blood
28	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:147177000-147180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:147177200-147184200	Strong transcription	Primary T cells from cord blood	blood
32	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:147177600-147181400	Weak transcription	GM12878-XiMat	blood
34	chr4:147177600-147182600	Weak transcription	Fetal Heart	heart
35	chr4:147177600-147187400	Weak transcription	Fetal Brain Female	brain
36	chr4:147177800-147182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:147177800-147182200	Weak transcription	HUVEC	blood vessel
38	chr4:147177800-147183800	Weak transcription	HSMMtube	muscle
39	chr4:147177800-147188200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:147178000-147181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:147178000-147182200	Weak transcription	Stomach Mucosa	stomach
42	chr4:147178000-147183800	Weak transcription	Lung	lung
43	chr4:147178000-147186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:147178000-147186400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:147178000-147195800	Weak transcription	NH-A	brain
46	chr4:147178000-147200400	Weak transcription	Fetal Lung	lung
47	chr4:147178200-147182200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:147178200-147189200	Weak transcription	HSMM	muscle
49	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
50	chr4:147178800-147181600	Weak transcription	Fetal Muscle Leg	muscle

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