Variant report

Variant	rs4670653
Chromosome Location	chr2:37312717-37312718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:37310017-37312964	SK-N-SH	brain:	n/a	n/a
2	TBL1XR1	chr2:37312681-37312881	K562	blood:	n/a	n/a
3	CEBPD	chr2:37312653-37313047	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37306796..37309782-chr2:37312097..37314349,2	K562	blood:
2	chr2:37311730..37314606-chr2:37345143..37347572,2	K562	blood:
3	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
4	chr2:37311131..37313325-chr2:37314182..37316886,3	MCF-7	breast:
5	chr2:37310057..37313374-chr2:37313742..37317078,6	K562	blood:

No data

Variant related genes	Relation type
HEATR5B	TF binding region
GPATCH11	TF binding region
ENSG00000152133	Chromatin interaction
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10153588	1.00[EUR][1000 genomes]
rs11124559	1.00[EUR][1000 genomes]
rs2307477	1.00[EUR][1000 genomes]
rs2540993	0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540994	1.00[EUR][1000 genomes]
rs2888443	1.00[EUR][1000 genomes]
rs4503966	1.00[EUR][1000 genomes]
rs4670654	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709976	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6734153	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6734269	0.87[AFR][1000 genomes]
rs6743906	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73924975	1.00[EUR][1000 genomes]
rs73927404	1.00[EUR][1000 genomes]
rs7596489	0.83[YRI][hapmap]

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37308800-37313200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:37310200-37313000	Active TSS	Right Atrium	heart
3	chr2:37310600-37313200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:37310800-37312800	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr2:37311800-37313000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr2:37312000-37312800	Flanking Active TSS	Liver	Liver
7	chr2:37312000-37312800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr2:37312000-37312800	Flanking Active TSS	NH-A	brain
9	chr2:37312000-37313000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:37312000-37313000	Flanking Active TSS	HMEC	breast
11	chr2:37312000-37313000	Flanking Active TSS	Osteobl	bone
12	chr2:37312000-37313200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:37312000-37313200	Flanking Active TSS	NHLF	lung
14	chr2:37312000-37313400	Flanking Active TSS	Dnd41	blood
15	chr2:37312000-37316800	Weak transcription	Spleen	Spleen
16	chr2:37312000-37320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:37312200-37312800	Flanking Active TSS	Fetal Brain Male	brain
18	chr2:37312200-37312800	Weak transcription	Small Intestine	intestine
19	chr2:37312200-37313600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:37312200-37314800	Weak transcription	Gastric	stomach
21	chr2:37312200-37316200	Weak transcription	Esophagus	oesophagus
22	chr2:37312200-37320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:37312200-37320000	Weak transcription	Lung	lung
24	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
26	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:37312400-37312800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:37312400-37312800	Enhancers	Primary B cells from cord blood	blood
29	chr2:37312400-37312800	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:37312400-37312800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:37312400-37312800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:37312400-37312800	Active TSS	K562	blood
33	chr2:37312400-37313000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:37312400-37313000	Enhancers	Primary T cells from cord blood	blood
35	chr2:37312400-37313000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:37312400-37313000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:37312400-37313000	Enhancers	Brain Anterior Caudate	brain
38	chr2:37312400-37313000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:37312400-37313000	Enhancers	Fetal Thymus	thymus
40	chr2:37312400-37313200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:37312400-37313200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:37312400-37313200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:37312400-37313200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:37312400-37313200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:37312400-37313200	Enhancers	Brain Angular Gyrus	brain
46	chr2:37312400-37313200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:37312400-37313200	Enhancers	Fetal Intestine Small	intestine
48	chr2:37312400-37313400	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:37312400-37313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:37312400-37313400	Enhancers	HSMM	muscle

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