Variant report

Variant	rs6438644
Chromosome Location	chr3:121349976-121349977
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	chr3:121344119..121346108-chr3:121348732..121350963,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10934555	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1128154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1128158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11927625	0.87[EUR][1000 genomes]
rs1492178	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070178	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2141488	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2331812	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772129	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3966068	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6770842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6804322	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73179962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73179967	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7356043	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9818194	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9818402	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9846174	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9859243	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9873644	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9873648	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9883663	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][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	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121342000-121350000	Weak transcription	Liver	Liver
2	chr3:121343800-121353000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:121345600-121376800	Weak transcription	Esophagus	oesophagus
4	chr3:121345800-121350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:121346200-121350000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:121346200-121351600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:121346400-121351800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:121346400-121353200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:121346800-121351800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:121347000-121378000	Weak transcription	Right Ventricle	heart
11	chr3:121347200-121352600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:121347200-121364400	Strong transcription	Primary B cells from cord blood	blood
13	chr3:121347400-121350800	Weak transcription	Right Atrium	heart
14	chr3:121347400-121352200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:121347400-121367200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:121347600-121350200	Weak transcription	HUVEC	blood vessel
17	chr3:121347600-121353000	Strong transcription	Fetal Thymus	thymus
18	chr3:121347600-121359400	Strong transcription	Primary T cells from cord blood	blood
19	chr3:121347600-121364600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:121347600-121364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr3:121347600-121364600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:121347800-121364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:121348000-121364600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:121348000-121364600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:121348000-121381800	Weak transcription	Aorta	Aorta
26	chr3:121348200-121364600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:121348400-121357400	Strong transcription	Spleen	Spleen
28	chr3:121348400-121364600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:121348400-121364600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr3:121348600-121350200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:121348800-121350200	Weak transcription	Gastric	stomach
32	chr3:121348800-121350400	Weak transcription	Adipose Nuclei	Adipose
33	chr3:121348800-121350400	Weak transcription	Colonic Mucosa	Colon
34	chr3:121348800-121350400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:121348800-121358600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:121348800-121363000	Weak transcription	Left Ventricle	heart
37	chr3:121348800-121364400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:121348800-121367200	Weak transcription	Pancreas	Pancrea
39	chr3:121349000-121356600	Weak transcription	Brain Anterior Caudate	brain
40	chr3:121349000-121359000	Strong transcription	Primary hematopoietic stem cells	blood
41	chr3:121349000-121364600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:121349000-121364600	Strong transcription	Dnd41	blood
43	chr3:121349000-121378000	Weak transcription	Fetal Stomach	stomach
44	chr3:121349200-121350000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:121349200-121351000	Genic enhancers	GM12878-XiMat	blood
46	chr3:121349200-121359200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:121349200-121362000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:121349200-121364200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:121349400-121364600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:121349400-121367000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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