Variant report

Variant	rs9321973
Chromosome Location	chr6:144728056-144728057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11965745	1.00[ASN][1000 genomes]
rs2223428	1.00[ASN][1000 genomes]
rs2328570	1.00[ASN][1000 genomes]
rs4546509	1.00[ASN][1000 genomes]
rs57580585	1.00[ASN][1000 genomes]
rs59893699	1.00[ASN][1000 genomes]
rs6902637	1.00[ASN][1000 genomes]
rs6910059	1.00[ASN][1000 genomes]
rs6920634	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs6936691	1.00[ASN][1000 genomes]
rs7748278	1.00[ASN][1000 genomes]
rs7755700	1.00[ASN][1000 genomes]
rs9484868	1.00[ASN][1000 genomes]
rs9484871	1.00[ASN][1000 genomes]
rs9484873	1.00[ASN][1000 genomes]
rs9496951	1.00[ASN][1000 genomes]
rs9496952	1.00[ASN][1000 genomes]
rs9496953	1.00[ASN][1000 genomes]
rs9496954	1.00[ASN][1000 genomes]
rs9496961	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv516523	chr6:144719765-144728332	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv527525	chr6:144719765-144737670	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144697200-144732600	Weak transcription	Gastric	stomach
2	chr6:144712600-144732600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:144716800-144729200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:144717400-144729400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:144719200-144736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:144719400-144728200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:144719400-144730600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:144719400-144732400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:144719400-144737000	Weak transcription	Spleen	Spleen
10	chr6:144719600-144729200	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:144719600-144729200	Weak transcription	Left Ventricle	heart
12	chr6:144719600-144730600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:144719600-144732400	Weak transcription	Fetal Thymus	thymus
14	chr6:144719600-144732600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:144719600-144732600	Weak transcription	Thymus	Thymus
16	chr6:144719600-144732800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:144719600-144736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:144719600-144736400	Weak transcription	HSMM	muscle
19	chr6:144719600-144744000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:144719800-144732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:144719800-144732400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:144719800-144743000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:144719800-144744400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:144720000-144732600	Weak transcription	GM12878-XiMat	blood
25	chr6:144720000-144743200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:144720000-144758200	Weak transcription	Fetal Intestine Small	intestine
27	chr6:144720200-144744000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:144721000-144732400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:144721000-144736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:144721200-144732400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:144722000-144729400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:144722400-144744000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:144723000-144730600	Weak transcription	Psoas Muscle	Psoas
34	chr6:144723000-144736800	Weak transcription	Right Ventricle	heart
35	chr6:144723200-144735800	Weak transcription	Pancreas	Pancrea
36	chr6:144723200-144736800	Weak transcription	Lung	lung
37	chr6:144723200-144737000	Weak transcription	Right Atrium	heart
38	chr6:144723200-144743000	Weak transcription	Liver	Liver
39	chr6:144723400-144732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:144723600-144728600	Strong transcription	HepG2	liver
41	chr6:144724200-144729400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:144725000-144729800	Weak transcription	Stomach Mucosa	stomach
43	chr6:144725000-144731000	Enhancers	Adipose Nuclei	Adipose
44	chr6:144725400-144728400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:144725400-144732400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:144725600-144729200	Weak transcription	Ovary	ovary
47	chr6:144725600-144730600	Weak transcription	Small Intestine	intestine
48	chr6:144726000-144729800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:144726400-144732400	Weak transcription	Primary T cells from cord blood	blood
50	chr6:144726600-144728200	Weak transcription	Fetal Kidney	kidney

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