Variant report

Variant	rs12630532
Chromosome Location	chr3:56825170-56825171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:56823666..56826610-chr3:56831227..56833916,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12638959	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1906957	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7635478	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs902226	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876818	chr3:56805376-56924711	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56807000-56833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:56814600-56826800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:56814800-56826600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:56816000-56825400	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:56816200-56827000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:56818000-56827000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:56818200-56826800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:56818200-56829400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:56818600-56826200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:56818600-56829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:56818600-56832000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:56819000-56829000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:56819000-56830400	Weak transcription	HSMM	muscle
14	chr3:56819200-56834400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:56819600-56829000	Weak transcription	Placenta	Placenta
16	chr3:56819800-56828000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:56820400-56825600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:56820400-56829000	Weak transcription	Fetal Kidney	kidney
19	chr3:56820600-56834600	Weak transcription	NHDF-Ad	bronchial
20	chr3:56820800-56828000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:56821000-56830400	Weak transcription	Fetal Brain Female	brain
22	chr3:56821200-56825600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:56821200-56826200	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:56821200-56826600	Enhancers	Left Ventricle	heart
25	chr3:56821200-56826600	Enhancers	Psoas Muscle	Psoas
26	chr3:56821400-56826000	Enhancers	Right Atrium	heart
27	chr3:56821400-56826200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:56821600-56829000	Weak transcription	Small Intestine	intestine
29	chr3:56822000-56825200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:56822400-56825600	Enhancers	Fetal Thymus	thymus
31	chr3:56822400-56825600	Weak transcription	Spleen	Spleen
32	chr3:56822400-56827600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:56822400-56829000	Weak transcription	Adipose Nuclei	Adipose
34	chr3:56822400-56833200	Weak transcription	Fetal Stomach	stomach
35	chr3:56822600-56825200	Enhancers	Brain Substantia Nigra	brain
36	chr3:56822800-56825600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:56822800-56833200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:56823200-56825200	Weak transcription	Lung	lung
39	chr3:56823400-56826600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr3:56823400-56828200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:56823400-56829600	Weak transcription	Fetal Brain Male	brain
42	chr3:56823400-56833200	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:56823600-56826200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:56823600-56829000	Weak transcription	Stomach Mucosa	stomach
45	chr3:56823800-56826800	Flanking Active TSS	Dnd41	blood
46	chr3:56823800-56826800	Enhancers	HepG2	liver
47	chr3:56823800-56827000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr3:56824000-56825200	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:56824000-56825400	Enhancers	NHEK	skin
50	chr3:56824000-56825800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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