Variant report

Variant	rs10947712
Chromosome Location	chr6:38055503-38055504
allele	G/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	chr6:38055430-38055589	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZFAND3	TF binding region

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10456097	0.81[EUR][1000 genomes]
rs10947713	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190306	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194618	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194823	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204352	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12212723	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213151	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214375	0.85[EUR][1000 genomes]
rs1569657	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16890344	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281266	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645102	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2645131	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645134	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645137	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2842500	0.81[EUR][1000 genomes]
rs34952988	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35257826	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56140804	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747130	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941850	0.86[EUR][1000 genomes];0.96[ASN][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

No data

Chromatin state (count:105 , 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	chr6:38031600-38059600	Weak transcription	Spleen	Spleen
3	chr6:38031600-38061600	Weak transcription	Brain Germinal Matrix	brain
4	chr6:38032400-38056200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:38033000-38063400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:38035000-38084000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:38036400-38075000	Weak transcription	Thymus	Thymus
8	chr6:38042800-38060000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:38045400-38058800	Weak transcription	Fetal Kidney	kidney
10	chr6:38045600-38055600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:38045600-38107000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:38045800-38058600	Weak transcription	Fetal Lung	lung
13	chr6:38045800-38059400	Weak transcription	Fetal Heart	heart
14	chr6:38045800-38059600	Weak transcription	Aorta	Aorta
15	chr6:38045800-38079800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:38046000-38084200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:38046200-38062600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:38046400-38063200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:38046600-38074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:38047000-38062800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:38047200-38058600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:38047200-38058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:38047400-38058800	Weak transcription	Brain Angular Gyrus	brain
24	chr6:38047600-38076200	Weak transcription	Fetal Stomach	stomach
25	chr6:38047800-38057400	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:38047800-38062400	Weak transcription	HepG2	liver
27	chr6:38048000-38060800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:38048000-38073000	Weak transcription	Small Intestine	intestine
29	chr6:38048200-38056400	Weak transcription	K562	blood
30	chr6:38048400-38056400	Strong transcription	Primary B cells from cord blood	blood
31	chr6:38048800-38055600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:38048800-38055600	Weak transcription	Brain Substantia Nigra	brain
33	chr6:38049000-38056200	Weak transcription	Brain Anterior Caudate	brain
34	chr6:38049000-38060800	Weak transcription	A549	lung
35	chr6:38049000-38061200	Weak transcription	NHDF-Ad	bronchial
36	chr6:38049200-38058200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:38049200-38062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:38049200-38062400	Weak transcription	NHLF	lung
39	chr6:38049200-38062600	Weak transcription	HMEC	breast
40	chr6:38049200-38072600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:38049200-38077400	Weak transcription	Fetal Intestine Small	intestine
42	chr6:38049400-38062400	Weak transcription	Osteobl	bone
43	chr6:38049400-38084400	Weak transcription	Hela-S3	cervix
44	chr6:38049600-38056200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:38049800-38055600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr6:38050000-38055800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:38050200-38055800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:38050400-38059200	Weak transcription	HUVEC	blood vessel
49	chr6:38050600-38062800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:38051200-38066800	Weak transcription	GM12878-XiMat	blood

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