Variant report

Variant	rs9631047
Chromosome Location	chr2:37306172-37306173
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37302270..37304818-chr2:37305275..37307556,3	K562	blood:
2	chr2:37303145..37307773-chr2:37309967..37312516,4	MCF-7	breast:
3	chr2:37305270..37307980-chr2:37309856..37311545,2	K562	blood:
4	chr2:37296556..37299505-chr2:37305358..37308642,3	K562	blood:
5	chr2:37301491..37304402-chr2:37305952..37309090,3	K562	blood:
6	chr2:37304349..37309005-chr2:37309804..37311828,5	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction
ENSG00000152133	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084315	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10176233	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10191403	1.00[YRI][hapmap]
rs10194972	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10202693	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10211667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12464180	0.82[AMR][1000 genomes]
rs12465097	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12466249	0.84[EUR][1000 genomes]
rs12469391	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470942	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12474977	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13382546	0.91[AMR][1000 genomes]
rs13398178	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13398187	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13399537	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424255	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425123	1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425846	0.91[AFR][1000 genomes]
rs13426400	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13426552	0.82[AMR][1000 genomes]
rs2307469	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4648182	1.00[CEU][hapmap]
rs4648184	1.00[CEU][hapmap]
rs4648203	1.00[CEU][hapmap]
rs4648228	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4648233	0.89[EUR][1000 genomes]
rs9309000	0.91[AMR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:37272400-37306400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:37275200-37307000	Strong transcription	Adipose Nuclei	Adipose
10	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:37279200-37309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:37279400-37307600	Strong transcription	Fetal Intestine Large	intestine
14	chr2:37281800-37307200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:37282000-37308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:37284600-37307200	Weak transcription	Stomach Mucosa	stomach
17	chr2:37287400-37309200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:37287600-37309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:37287800-37306600	Strong transcription	Primary B cells from cord blood	blood
20	chr2:37289000-37309400	Strong transcription	Fetal Thymus	thymus
21	chr2:37289400-37307600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:37289800-37306400	Strong transcription	Brain Anterior Caudate	brain
23	chr2:37290000-37307400	Weak transcription	Fetal Heart	heart
24	chr2:37292200-37310200	Weak transcription	Colonic Mucosa	Colon
25	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:37292400-37307000	Weak transcription	Small Intestine	intestine
27	chr2:37293000-37307200	Weak transcription	Right Ventricle	heart
28	chr2:37293000-37309800	Weak transcription	Spleen	Spleen
29	chr2:37293200-37308400	Weak transcription	HSMMtube	muscle
30	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:37294000-37309200	Weak transcription	Fetal Brain Male	brain
33	chr2:37295600-37306200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:37296200-37309600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:37297400-37308400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:37297400-37310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:37297600-37309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:37297600-37310400	Weak transcription	Pancreas	Pancrea
39	chr2:37297600-37310800	Weak transcription	Lung	lung
40	chr2:37299200-37306400	Strong transcription	HSMM	muscle
41	chr2:37299400-37307200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:37299400-37308000	Weak transcription	Thymus	Thymus
43	chr2:37299600-37309600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:37300600-37306200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:37300600-37306200	Strong transcription	HUVEC	blood vessel
46	chr2:37301000-37307000	Strong transcription	Dnd41	blood
47	chr2:37301000-37308800	Strong transcription	Liver	Liver
48	chr2:37301600-37306200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:37301600-37307400	Strong transcription	HepG2	liver
50	chr2:37301800-37306400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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