Variant report

Variant	rs4712144
Chromosome Location	chr6:57192417-57192418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57189628..57192491-chr6:57192735..57194263,2	K562	blood:
2	chr6:57184109..57185924-chr6:57191382..57194380,2	K562	blood:
3	chr6:57188094..57190184-chr6:57192296..57194436,2	MCF-7	breast:
4	chr6:57182975..57187891-chr6:57191602..57197743,6	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1013893	0.87[CHB][hapmap]
rs1013894	0.82[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1019210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1029872	0.95[CHB][hapmap]
rs10733187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1119375	0.82[CHB][hapmap]
rs12664535	0.82[CHB][hapmap]
rs1618210	0.95[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs1741916	1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MKK][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1755833	0.91[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.86[MKK][hapmap];0.82[ASN][1000 genomes]
rs2013464	0.81[CHB][hapmap]
rs2013480	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs2098172	0.91[CHB][hapmap]
rs2191651	0.82[CHB][hapmap]
rs2215511	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs3757294	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3800015	0.87[CHB][hapmap]
rs4288209	1.00[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap]
rs4712149	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4712154	0.82[CHB][hapmap]
rs4715654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4715655	0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.88[MKK][hapmap];0.82[ASN][1000 genomes]
rs4715656	0.95[CHB][hapmap]
rs4715657	0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.82[ASN][1000 genomes]
rs6459191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6459193	0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap]
rs7738530	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs7771738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296865	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9357943	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs9357944	0.87[CHB][hapmap]
rs9396278	0.87[CHB][hapmap]
rs980327	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57182800-57192600	Weak transcription	Aorta	Aorta
2	chr6:57182800-57194200	Weak transcription	Small Intestine	intestine
3	chr6:57183000-57192600	Weak transcription	Esophagus	oesophagus
4	chr6:57183000-57194200	Weak transcription	Pancreas	Pancrea
5	chr6:57183000-57194200	Weak transcription	Spleen	Spleen
6	chr6:57183000-57194400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:57183000-57194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
9	chr6:57183200-57192600	Weak transcription	Colonic Mucosa	Colon
10	chr6:57183200-57192800	Weak transcription	Brain Angular Gyrus	brain
11	chr6:57183200-57194400	Weak transcription	Psoas Muscle	Psoas
12	chr6:57183200-57199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:57183800-57192600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:57183800-57192800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:57183800-57193400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:57183800-57194200	Strong transcription	Fetal Thymus	thymus
17	chr6:57184000-57193200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:57184000-57194600	Strong transcription	Primary B cells from cord blood	blood
19	chr6:57184000-57195800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:57184200-57194400	Weak transcription	Fetal Heart	heart
21	chr6:57184200-57201200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:57184400-57193600	Strong transcription	Primary T cells from cord blood	blood
23	chr6:57184600-57194400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:57184600-57196000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:57184600-57196200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:57184600-57199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:57184800-57194400	Strong transcription	HepG2	liver
28	chr6:57184800-57194800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr6:57184800-57199600	Strong transcription	HSMM	muscle
30	chr6:57185000-57195000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:57185200-57194400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:57185200-57195800	Strong transcription	Osteobl	bone
33	chr6:57186000-57194200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:57186400-57194000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:57186400-57194200	Weak transcription	Right Ventricle	heart
36	chr6:57187200-57192600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:57187400-57193000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:57187400-57196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:57187600-57192600	Weak transcription	Ovary	ovary
40	chr6:57188800-57194800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr6:57189400-57195200	Strong transcription	Hela-S3	cervix
42	chr6:57189800-57192600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:57189800-57193000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:57189800-57194600	Strong transcription	Fetal Intestine Large	intestine
45	chr6:57190000-57192600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr6:57190000-57192600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:57190000-57193000	Strong transcription	Fetal Intestine Small	intestine
48	chr6:57190000-57193400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr6:57190000-57193600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:57190000-57194200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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