Variant report

Variant	rs197510
Chromosome Location	chr6:143096720-143096721
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143096514..143098025-chr6:143100418..143102424,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs197455	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs197458	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs197496	0.80[ASN][1000 genomes]
rs197497	0.80[ASN][1000 genomes]
rs197498	0.80[ASN][1000 genomes]
rs197499	0.80[ASN][1000 genomes]
rs197500	0.80[ASN][1000 genomes]
rs197501	0.80[ASN][1000 genomes]
rs197502	0.81[ASN][1000 genomes]
rs197505	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs197507	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs197508	0.94[ASN][1000 genomes]
rs197509	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9496464	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3402921	chr6:143090059-143097157	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143081800-143097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:143081800-143105600	Weak transcription	Small Intestine	intestine
3	chr6:143082200-143097000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:143083400-143097400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:143087000-143097400	Weak transcription	Fetal Heart	heart
6	chr6:143091200-143099600	Weak transcription	Right Atrium	heart
7	chr6:143091400-143102800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:143092200-143097600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:143092800-143102600	Weak transcription	Psoas Muscle	Psoas
10	chr6:143093000-143101400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:143094200-143104600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:143094800-143109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:143095400-143101200	Weak transcription	Fetal Brain Male	brain
14	chr6:143095600-143097200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:143095600-143098000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:143095600-143102400	Weak transcription	Aorta	Aorta
17	chr6:143095600-143102600	Weak transcription	Brain Germinal Matrix	brain
18	chr6:143095800-143096800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:143095800-143096800	Weak transcription	Colonic Mucosa	Colon
20	chr6:143095800-143096800	Weak transcription	Lung	lung
21	chr6:143095800-143097400	Weak transcription	Gastric	stomach
22	chr6:143095800-143097600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:143095800-143098400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:143095800-143100000	Weak transcription	HMEC	breast
25	chr6:143095800-143101400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:143095800-143102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:143095800-143103400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:143095800-143117600	Weak transcription	Fetal Lung	lung
29	chr6:143095800-143122200	Weak transcription	NHEK	skin
30	chr6:143096000-143096800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:143096000-143096800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:143096000-143097600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:143096000-143097600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:143096000-143097600	Weak transcription	Fetal Kidney	kidney
35	chr6:143096000-143097600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:143096000-143097600	Weak transcription	Spleen	Spleen
37	chr6:143096000-143097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:143096000-143097800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:143096000-143097800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:143096000-143097800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:143096000-143097800	Weak transcription	Esophagus	oesophagus
42	chr6:143096000-143097800	Weak transcription	HSMMtube	muscle
43	chr6:143096000-143097800	Weak transcription	NHLF	lung
44	chr6:143096000-143098400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:143096000-143098400	Weak transcription	HepG2	liver
46	chr6:143096000-143101200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:143096000-143101400	Weak transcription	Right Ventricle	heart
48	chr6:143096000-143102400	Weak transcription	Primary B cells from cord blood	blood
49	chr6:143096000-143102400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:143096000-143102600	Weak transcription	Brain Anterior Caudate	brain

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