Variant report

Variant	rs7596489
Chromosome Location	chr2:37307246-37307247
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr2:37307192-37307377	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:37307077-37307488	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

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	chr2:37306796..37309782-chr2:37312097..37314349,2	K562	blood:
5	chr2:37296556..37299505-chr2:37305358..37308642,3	K562	blood:
6	chr2:37301491..37304402-chr2:37305952..37309090,3	K562	blood:
7	chr2:37304349..37309005-chr2:37309804..37311828,5	K562	blood:

No data

Variant related genes	Relation type
GPATCH11	TF binding region
HEATR5B	TF binding region
ENSG00000152133	Chromatin interaction
ENSG00000008869	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10176303	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10188586	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10191403	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10194972	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13398187	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13425846	0.95[EUR][1000 genomes]
rs2307483	0.87[CEU][hapmap]
rs2373114	0.88[CEU][hapmap]
rs2540993	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs2541001	0.96[EUR][1000 genomes]
rs3845782	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs4648202	0.87[CEU][hapmap]
rs4670653	0.83[YRI][hapmap]
rs4670654	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs6709976	0.80[AFR][1000 genomes]
rs6718647	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6732075	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6734153	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs6743906	0.90[YRI][hapmap];0.85[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: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	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:37279200-37309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:37279400-37307600	Strong transcription	Fetal Intestine Large	intestine
10	chr2:37282000-37308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:37287400-37309200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:37287600-37309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:37289000-37309400	Strong transcription	Fetal Thymus	thymus
14	chr2:37289400-37307600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:37290000-37307400	Weak transcription	Fetal Heart	heart
16	chr2:37292200-37310200	Weak transcription	Colonic Mucosa	Colon
17	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:37293000-37309800	Weak transcription	Spleen	Spleen
19	chr2:37293200-37308400	Weak transcription	HSMMtube	muscle
20	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:37294000-37309200	Weak transcription	Fetal Brain Male	brain
23	chr2:37296200-37309600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:37297400-37308400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:37297400-37310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:37297600-37309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:37297600-37310400	Weak transcription	Pancreas	Pancrea
28	chr2:37297600-37310800	Weak transcription	Lung	lung
29	chr2:37299400-37308000	Weak transcription	Thymus	Thymus
30	chr2:37299600-37309600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:37301000-37308800	Strong transcription	Liver	Liver
32	chr2:37301600-37307400	Strong transcription	HepG2	liver
33	chr2:37301800-37307400	Strong transcription	Fetal Lung	lung
34	chr2:37302000-37309000	Strong transcription	NH-A	brain
35	chr2:37302200-37310000	Weak transcription	Hela-S3	cervix
36	chr2:37302200-37310000	Strong transcription	Osteobl	bone
37	chr2:37302600-37307600	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:37302600-37308400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:37302600-37310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:37302800-37310400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:37302800-37310400	Weak transcription	Fetal Kidney	kidney
42	chr2:37303200-37309000	Strong transcription	Fetal Brain Female	brain
43	chr2:37303600-37309600	Weak transcription	NHEK	skin
44	chr2:37303600-37309800	Weak transcription	NHLF	lung
45	chr2:37303600-37310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:37303800-37308800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:37303800-37310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:37304000-37308000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:37304000-37309600	Weak transcription	Ovary	ovary
50	chr2:37304200-37308000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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