Variant report

Variant	rs9498358
Chromosome Location	chr6:149779665-149779666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:149779459-149780038	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149779659..149781916-chr6:149782862..149785427,2	K562	blood:

Variant related genes	Relation type
ZC3H12D	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1001305	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155646	0.91[ASN][1000 genomes]
rs11155654	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192159	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192814	0.91[ASN][1000 genomes]
rs12195922	0.82[ASN][1000 genomes]
rs58747890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62441727	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6911411	0.91[ASN][1000 genomes]
rs6932778	1.00[ASN][1000 genomes]
rs7741099	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747354	1.00[ASN][1000 genomes]
rs7747948	1.00[ASN][1000 genomes]
rs7762222	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485385	0.91[ASN][1000 genomes]
rs9485392	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485394	0.91[ASN][1000 genomes]
rs9485397	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9498349	0.91[ASN][1000 genomes]
rs9498351	0.91[ASN][1000 genomes]
rs9498352	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498353	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498354	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498355	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498356	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
2	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:149773000-149783400	Strong transcription	Primary B cells from cord blood	blood
8	chr6:149775800-149780800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:149776000-149780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:149776200-149780600	Weak transcription	NH-A	brain
11	chr6:149776200-149785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:149776200-149789600	Weak transcription	Fetal Thymus	thymus
13	chr6:149776400-149780600	Weak transcription	Osteobl	bone
14	chr6:149776400-149784400	Weak transcription	Small Intestine	intestine
15	chr6:149776400-149784800	Weak transcription	HepG2	liver
16	chr6:149776400-149785200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr6:149776400-149785400	Weak transcription	HSMMtube	muscle
18	chr6:149776600-149780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:149776600-149781600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:149776600-149785200	Weak transcription	Colonic Mucosa	Colon
21	chr6:149776800-149780000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:149776800-149782600	Weak transcription	Stomach Mucosa	stomach
23	chr6:149776800-149785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:149776800-149785200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:149776800-149785200	Weak transcription	Hela-S3	cervix
26	chr6:149776800-149785400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:149777000-149779800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:149777000-149780800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:149777600-149779800	Enhancers	Right Ventricle	heart
31	chr6:149778000-149781400	Strong transcription	GM12878-XiMat	blood
32	chr6:149778000-149783400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:149778200-149779800	Enhancers	Fetal Lung	lung
34	chr6:149778200-149781600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:149778200-149783600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr6:149778400-149783000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:149778400-149785400	Weak transcription	Gastric	stomach
38	chr6:149778400-149787200	Weak transcription	Spleen	Spleen
39	chr6:149778600-149780600	Weak transcription	Fetal Intestine Small	intestine
40	chr6:149778800-149780800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:149778800-149781200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr6:149779000-149784800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:149779400-149779800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:149779400-149779800	Enhancers	Adipose Nuclei	Adipose
45	chr6:149779400-149780000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr6:149779400-149781000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:149779400-149781000	Enhancers	Right Atrium	heart
48	chr6:149779400-149781800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr6:149779600-149779800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:149779600-149780000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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