Variant report

Variant	rs12995738
Chromosome Location	chr2:37352057-37352058
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	chr2:37347811..37350373-chr2:37350894..37352839,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11690823	0.84[AFR][1000 genomes]
rs2888443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4503966	0.82[AFR][1000 genomes]

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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:37320600-37368000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:37322400-37352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:37332600-37375200	Strong transcription	Liver	Liver
8	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:37333400-37362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:37333400-37366400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:37335600-37370400	Weak transcription	Fetal Heart	heart
12	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
13	chr2:37336600-37352600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:37336800-37360000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:37337200-37353000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:37341200-37352400	Weak transcription	NH-A	brain
18	chr2:37341600-37369000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:37341800-37352200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:37342200-37367800	Strong transcription	Fetal Stomach	stomach
21	chr2:37342400-37357000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:37342400-37376400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:37342400-37376400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:37342400-37376600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:37342600-37357800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:37344000-37352200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:37346200-37358200	Strong transcription	Fetal Intestine Small	intestine
28	chr2:37346400-37360400	Weak transcription	Fetal Brain Male	brain
29	chr2:37346400-37376200	Strong transcription	Fetal Intestine Large	intestine
30	chr2:37346600-37352200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:37346600-37352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:37346600-37352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:37346600-37352600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:37346600-37352800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:37346600-37354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:37346600-37358600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:37346600-37359800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:37346600-37373200	Weak transcription	Stomach Mucosa	stomach
39	chr2:37347000-37352400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:37347600-37354600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:37347600-37376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:37347800-37376400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:37347800-37376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:37348200-37359800	Strong transcription	Placenta	Placenta
45	chr2:37348400-37353400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:37348400-37353800	Strong transcription	Primary B cells from cord blood	blood
47	chr2:37348400-37353800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:37348400-37376000	Strong transcription	Adipose Nuclei	Adipose
49	chr2:37348400-37377000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:37348600-37357200	Strong transcription	Stomach Smooth Muscle	stomach

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