Variant report

Variant	rs7349990
Chromosome Location	chr7:38219866-38219867
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38218320..38221053-chr7:38246020..38247686,2	K562	blood:
2	chr7:38219568..38221988-chr7:38224913..38228070,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11561858	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056051	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154578	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155480	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12701609	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701610	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701612	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13224408	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13228385	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235913	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13241002	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171309	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2075008	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270166	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34362539	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385844	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34723472	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34809818	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34928238	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34954380	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35084352	0.83[AMR][1000 genomes]
rs35268837	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35505895	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35616688	0.83[AMR][1000 genomes]
rs35633605	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35849318	0.81[EUR][1000 genomes]
rs35899177	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61181871	0.83[AMR][1000 genomes]
rs71546629	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546630	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546632	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546635	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71546636	0.85[EUR][1000 genomes]
rs7795457	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38217200-38220000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:38217200-38220000	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:38217200-38220600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:38218400-38220000	Flanking Active TSS	Dnd41	blood
5	chr7:38218400-38220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:38218400-38220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:38218400-38223400	Weak transcription	Small Intestine	intestine
8	chr7:38218400-38225000	Weak transcription	Gastric	stomach
9	chr7:38218600-38220000	Flanking Active TSS	HMEC	breast
10	chr7:38218600-38220200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:38218600-38220200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:38218600-38220600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:38218600-38221000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:38218600-38221200	Flanking Active TSS	HUVEC	blood vessel
15	chr7:38218600-38221600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:38218600-38222400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:38218600-38224000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:38218600-38226200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:38218600-38226600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
21	chr7:38218800-38220000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:38218800-38220000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:38218800-38220000	Flanking Active TSS	Fetal Lung	lung
24	chr7:38218800-38220000	Flanking Active TSS	Osteobl	bone
25	chr7:38218800-38220200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:38218800-38220200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:38218800-38220200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:38218800-38220200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:38218800-38220400	Flanking Active TSS	K562	blood
30	chr7:38218800-38220400	Flanking Active TSS	NH-A	brain
31	chr7:38218800-38220600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:38218800-38220600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:38218800-38221600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:38218800-38223000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:38218800-38227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:38218800-38227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:38218800-38227800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:38219000-38220200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:38219000-38220200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:38219000-38220200	Enhancers	Fetal Stomach	stomach
41	chr7:38219000-38220200	Enhancers	Stomach Mucosa	stomach
42	chr7:38219000-38220200	Enhancers	Thymus	Thymus
43	chr7:38219000-38220200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr7:38219000-38220400	Enhancers	Fetal Intestine Small	intestine
45	chr7:38219000-38220600	Enhancers	Primary B cells from cord blood	blood
46	chr7:38219000-38220800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:38219000-38221000	Enhancers	Primary T cells from cord blood	blood
48	chr7:38219200-38220000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:38219200-38220000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:38219200-38220200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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