Variant report

Variant	rs7661641
Chromosome Location	chr4:122718414-122718415
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	chr4:122713231..122718740-chr4:122718856..122724586,12	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10002280	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857086	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13105974	0.91[ASN][1000 genomes]
rs13106485	0.96[ASN][1000 genomes]
rs1532968	0.94[ASN][1000 genomes]
rs17517624	0.86[ASN][1000 genomes]
rs2661553	0.96[ASN][1000 genomes]
rs2661555	0.94[ASN][1000 genomes]
rs2706791	0.96[ASN][1000 genomes]
rs2706792	0.96[ASN][1000 genomes]
rs2706793	0.96[ASN][1000 genomes]
rs2706796	0.88[ASN][1000 genomes]
rs28665553	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4240261	0.80[AMR][1000 genomes]
rs4295291	0.96[ASN][1000 genomes]
rs4342205	0.80[AMR][1000 genomes]
rs4519820	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4833774	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6534319	0.80[AMR][1000 genomes]
rs6534321	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6534325	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6819870	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6823686	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6830128	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6836290	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6838198	0.94[ASN][1000 genomes]
rs7665098	0.80[AMR][1000 genomes]
rs7690095	0.93[ASN][1000 genomes]
rs7690991	0.80[AMR][1000 genomes]
rs9999982	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122711800-122721800	Weak transcription	Fetal Stomach	stomach
2	chr4:122711800-122721800	Weak transcription	HMEC	breast
3	chr4:122712200-122720800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:122712200-122721600	Weak transcription	A549	lung
5	chr4:122713200-122721000	Weak transcription	HSMMtube	muscle
6	chr4:122714600-122721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:122715600-122721800	Enhancers	Fetal Thymus	thymus
8	chr4:122716200-122720400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:122716200-122721000	Weak transcription	Fetal Heart	heart
10	chr4:122716200-122721800	Weak transcription	Osteobl	bone
11	chr4:122716800-122721600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:122717000-122721800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:122717200-122720200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:122717200-122720400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:122717400-122720600	Weak transcription	K562	blood
16	chr4:122717400-122721800	Weak transcription	NHEK	skin
17	chr4:122717600-122719000	Enhancers	Dnd41	blood
18	chr4:122717600-122719200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:122717600-122719400	Weak transcription	Thymus	Thymus
20	chr4:122717600-122720600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:122717600-122720600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:122717600-122720600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:122717600-122720600	Weak transcription	HSMM	muscle
24	chr4:122717600-122720600	Weak transcription	NHDF-Ad	bronchial
25	chr4:122717600-122721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:122717600-122721800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:122717600-122721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:122717600-122721800	Weak transcription	Fetal Lung	lung
29	chr4:122717600-122721800	Weak transcription	NH-A	brain
30	chr4:122717600-122721800	Weak transcription	NHLF	lung
31	chr4:122717600-122722000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:122717800-122719400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:122717800-122719800	Weak transcription	HepG2	liver
34	chr4:122717800-122721600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:122717800-122721800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:122717800-122721800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:122717800-122721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:122717800-122721800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:122717800-122721800	Weak transcription	HUVEC	blood vessel
40	chr4:122718000-122719600	Weak transcription	GM12878-XiMat	blood
41	chr4:122718000-122720400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:122718000-122721800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:122718000-122721800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:122718200-122721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:122718200-122721800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:122718200-122721800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:122718200-122721800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:122718200-122721800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:122718200-122721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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