Variant report

Variant	rs7600976
Chromosome Location	chr2:182645340-182645341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182637643..182640339-chr2:182643105..182646087,2	K562	blood:
2	chr2:182633948..182636625-chr2:182642874..182645576,3	MCF-7	breast:
3	chr2:182640852..182647278-chr2:182753659..182759466,8	MCF-7	breast:
4	chr2:182645215..182647741-chr2:182652412..182654174,2	K562	blood:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10166975	0.85[AFR][1000 genomes]
rs10167581	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10171629	0.95[AFR][1000 genomes]
rs10189187	0.85[AFR][1000 genomes]
rs10191082	0.85[AFR][1000 genomes]
rs10201303	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs10203440	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13384259	0.90[AFR][1000 genomes]
rs13391733	0.89[AFR][1000 genomes]
rs13396152	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401364	0.89[AFR][1000 genomes]
rs13404156	0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs1528024	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs1528025	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs1528026	0.82[AFR][1000 genomes]
rs1528027	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs16867498	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs4597477	0.85[AFR][1000 genomes]
rs6707164	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs6707654	0.85[AFR][1000 genomes]
rs6720109	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs6723011	0.85[AFR][1000 genomes]
rs6736341	0.85[AFR][1000 genomes]
rs6736766	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs6739707	0.85[AFR][1000 genomes]
rs6741761	0.90[AFR][1000 genomes]
rs6751464	0.85[AFR][1000 genomes]
rs6754819	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 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	chr2:182636400-182645800	Weak transcription	Pancreas	Pancrea
2	chr2:182640600-182646400	Enhancers	HUVEC	blood vessel
3	chr2:182641800-182649600	Enhancers	Fetal Intestine Large	intestine
4	chr2:182641800-182650000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:182642200-182646200	Enhancers	NHEK	skin
6	chr2:182642200-182657200	Enhancers	Hela-S3	cervix
7	chr2:182642400-182645400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:182642400-182646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:182642400-182646600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:182642400-182647200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:182642400-182647600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:182642600-182646200	Enhancers	HMEC	breast
13	chr2:182643000-182645400	Enhancers	Osteobl	bone
14	chr2:182643200-182645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:182643200-182645600	Enhancers	Brain Anterior Caudate	brain
16	chr2:182643200-182645600	Enhancers	NHLF	lung
17	chr2:182643200-182645800	Enhancers	Brain Hippocampus Middle	brain
18	chr2:182643200-182645800	Enhancers	NH-A	brain
19	chr2:182643200-182646000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:182643200-182646200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:182643200-182646400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:182643400-182645400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:182643400-182645600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:182643400-182645600	Enhancers	Brain Substantia Nigra	brain
25	chr2:182643400-182645600	Enhancers	Placenta	Placenta
26	chr2:182643400-182646000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:182643400-182646000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:182643400-182646200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:182643400-182646200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:182643400-182646400	Enhancers	Small Intestine	intestine
31	chr2:182643400-182646600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:182643400-182646600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:182643400-182646800	Enhancers	HepG2	liver
34	chr2:182643400-182647000	Enhancers	Fetal Intestine Small	intestine
35	chr2:182643600-182645400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:182643800-182645400	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:182643800-182645600	Enhancers	Brain Angular Gyrus	brain
38	chr2:182643800-182646200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:182644000-182645400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:182644000-182645400	Enhancers	NHDF-Ad	bronchial
41	chr2:182644000-182645600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:182644000-182645600	Enhancers	Fetal Lung	lung
43	chr2:182644000-182646000	Enhancers	Fetal Stomach	stomach
44	chr2:182644000-182646200	Enhancers	Dnd41	blood
45	chr2:182644000-182646400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:182644000-182647800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:182644200-182645600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:182644200-182645600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:182644200-182646400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:182644200-182646800	Enhancers	Duodenum Mucosa	Duodenum

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