Variant report

Variant	rs12207689
Chromosome Location	chr6:39166496-39166497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39152267..39154461-chr6:39165553..39167804,2	K562	blood:
2	chr6:39165930..39168040-chr6:39169628..39171781,2	K562	blood:
3	chr6:39162911..39167327-chr6:39168116..39172779,6	MCF-7	breast:
4	chr6:39152812..39154721-chr6:39166329..39169173,2	K562	blood:
5	chr6:39164203..39166595-chr6:39175692..39177360,2	K562	blood:
6	chr6:39158722..39165685-chr6:39165726..39171665,10	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10807202	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10947786	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs10947787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10947788	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10947789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12190363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12200013	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12202900	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033226	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714223	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714224	0.89[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs55818834	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6918122	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72851851	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1022974	chr6:39120271-39277553	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39149000-39168000	Weak transcription	Fetal Kidney	kidney
2	chr6:39150600-39193800	Genic enhancers	Fetal Intestine Small	intestine
3	chr6:39155400-39172400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:39155600-39166600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:39156400-39177200	Weak transcription	Primary T cells from cord blood	blood
6	chr6:39156600-39169600	Weak transcription	A549	lung
7	chr6:39156800-39171200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:39156800-39193400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:39157400-39166800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:39161800-39168600	Genic enhancers	K562	blood
11	chr6:39162200-39170200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:39163200-39167400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:39163400-39166800	Weak transcription	Lung	lung
14	chr6:39163600-39167600	Weak transcription	Fetal Lung	lung
15	chr6:39163600-39168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:39163800-39167200	Weak transcription	Esophagus	oesophagus
17	chr6:39163800-39170000	Weak transcription	Ovary	ovary
18	chr6:39163800-39170000	Enhancers	Pancreas	Pancrea
19	chr6:39163800-39171200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:39163800-39174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:39163800-39192800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:39164000-39167400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:39164000-39168000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:39164000-39171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:39164000-39171200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:39164200-39166600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:39164200-39167000	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:39164200-39168600	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr6:39164200-39168800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:39164200-39170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:39164200-39170800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr6:39164200-39171200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:39164400-39167800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:39164400-39168400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:39164400-39169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:39164400-39170400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:39164600-39168400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:39164600-39173400	Enhancers	Stomach Mucosa	stomach
39	chr6:39164800-39170200	Weak transcription	Hela-S3	cervix
40	chr6:39164800-39170800	Genic enhancers	Fetal Intestine Large	intestine
41	chr6:39165000-39166800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:39165200-39171000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:39165400-39166600	Weak transcription	Spleen	Spleen
44	chr6:39165400-39166800	Weak transcription	Colonic Mucosa	Colon
45	chr6:39165400-39169600	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:39165400-39172600	Weak transcription	Fetal Stomach	stomach
47	chr6:39165600-39166600	Enhancers	Fetal Thymus	thymus
48	chr6:39165800-39167200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:39166000-39166600	Weak transcription	Liver	Liver
50	chr6:39166000-39166600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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