Variant report

Variant	rs12214375
Chromosome Location	chr6:38082054-38082055
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38081404..38083736-chr6:38087188..38089402,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10456097	0.82[EUR][1000 genomes]
rs10947712	0.85[EUR][1000 genomes]
rs10947713	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs12190306	0.91[EUR][1000 genomes]
rs12194618	0.88[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs12194823	0.92[EUR][1000 genomes]
rs12200258	0.92[CEU][hapmap]
rs12204352	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs12212723	0.95[EUR][1000 genomes]
rs12213151	0.88[EUR][1000 genomes]
rs13220131	1.00[ASN][1000 genomes]
rs1569657	0.89[EUR][1000 genomes]
rs16890344	0.92[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2281266	0.88[EUR][1000 genomes]
rs259686	0.85[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs259689	0.89[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs259690	0.89[CEU][hapmap]
rs259691	0.89[CEU][hapmap]
rs2645102	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2645107	0.92[CEU][hapmap]
rs2645113	0.80[EUR][1000 genomes]
rs2645116	0.92[CEU][hapmap]
rs2645131	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2645134	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2645137	0.88[EUR][1000 genomes]
rs2842500	0.82[EUR][1000 genomes]
rs2842517	0.92[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs2842527	0.92[CEU][hapmap];1.00[TSI][hapmap]
rs2842529	0.80[EUR][1000 genomes]
rs34952988	0.91[EUR][1000 genomes]
rs35257826	0.90[EUR][1000 genomes]
rs56140804	0.97[EUR][1000 genomes]
rs7747130	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs941850	0.93[EUR][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12214375	TAF11	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38030800-38085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:38035000-38084000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:38045600-38107000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:38046000-38084200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:38049400-38084400	Weak transcription	Hela-S3	cervix
6	chr6:38052800-38083800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:38052800-38084000	Weak transcription	Dnd41	blood
8	chr6:38053000-38084000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:38053000-38090400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:38053200-38084000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:38054400-38084000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:38054600-38084000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:38055600-38084400	Weak transcription	Adipose Nuclei	Adipose
14	chr6:38055800-38084200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:38057200-38109200	Weak transcription	K562	blood
16	chr6:38059800-38091600	Weak transcription	Spleen	Spleen
17	chr6:38060000-38092000	Weak transcription	Aorta	Aorta
18	chr6:38060000-38099400	Weak transcription	Right Ventricle	heart
19	chr6:38060000-38108200	Weak transcription	Ovary	ovary
20	chr6:38063400-38083600	Weak transcription	HepG2	liver
21	chr6:38063400-38085600	Weak transcription	A549	lung
22	chr6:38063800-38099000	Weak transcription	NH-A	brain
23	chr6:38068400-38083800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:38068400-38083800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:38068600-38084200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:38071800-38091400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:38072000-38085400	Weak transcription	GM12878-XiMat	blood
28	chr6:38072200-38108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:38073000-38082400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:38073200-38082400	Weak transcription	Small Intestine	intestine
31	chr6:38073400-38082200	Weak transcription	HMEC	breast
32	chr6:38073400-38084000	Weak transcription	HUVEC	blood vessel
33	chr6:38073600-38082800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:38074200-38086000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:38074600-38085800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:38074600-38086000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:38074800-38084200	Weak transcription	Placenta	Placenta
38	chr6:38075200-38084400	Weak transcription	Liver	Liver
39	chr6:38075200-38092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:38075200-38118200	Weak transcription	Colonic Mucosa	Colon
41	chr6:38075400-38083600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:38075400-38084400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:38075400-38103800	Weak transcription	Pancreas	Pancrea
44	chr6:38076400-38082200	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:38076400-38091400	Strong transcription	Primary B cells from cord blood	blood
46	chr6:38076600-38082200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:38076600-38082200	Weak transcription	Right Atrium	heart
48	chr6:38076600-38084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:38076600-38084200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:38076600-38084200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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