Variant report

Variant	rs17649630
Chromosome Location	chr6:38053751-38053752
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38046808..38049767-chr6:38051666..38053888,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11751393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11753390	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11753809	0.85[ASN][1000 genomes]
rs11755262	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11755824	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757371	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11757622	0.85[ASN][1000 genomes]
rs11759754	0.85[ASN][1000 genomes]
rs13552	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16890376	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890395	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648097	0.85[ASN][1000 genomes]
rs17648634	0.85[ASN][1000 genomes]
rs17648699	0.85[ASN][1000 genomes]
rs17649606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55898002	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56100831	0.85[ASN][1000 genomes]
rs56136126	0.85[ASN][1000 genomes]
rs59522592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59810748	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61521259	0.85[ASN][1000 genomes]
rs61705055	0.85[ASN][1000 genomes]
rs68148876	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6925259	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6930340	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72850806	0.85[ASN][1000 genomes]
rs72850831	0.85[ASN][1000 genomes]
rs72850855	0.85[ASN][1000 genomes]
rs72850856	0.85[ASN][1000 genomes]
rs72850871	0.85[ASN][1000 genomes]
rs72852516	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72852536	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72852555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72852565	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852588	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994530	1.00[AFR][1000 genomes];0.85[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:38023000-38054800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:38026200-38053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:38030800-38085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:38031600-38059600	Weak transcription	Spleen	Spleen
6	chr6:38031600-38061600	Weak transcription	Brain Germinal Matrix	brain
7	chr6:38032400-38056200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:38033000-38063400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:38035000-38084000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:38036400-38075000	Weak transcription	Thymus	Thymus
11	chr6:38042800-38060000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:38045400-38058800	Weak transcription	Fetal Kidney	kidney
13	chr6:38045600-38055600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:38045600-38107000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:38045800-38058600	Weak transcription	Fetal Lung	lung
16	chr6:38045800-38059400	Weak transcription	Fetal Heart	heart
17	chr6:38045800-38059600	Weak transcription	Aorta	Aorta
18	chr6:38045800-38079800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:38046000-38084200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:38046200-38062600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:38046400-38063200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:38046600-38074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:38047000-38062800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:38047200-38058600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:38047200-38058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:38047400-38058800	Weak transcription	Brain Angular Gyrus	brain
27	chr6:38047600-38076200	Weak transcription	Fetal Stomach	stomach
28	chr6:38047800-38055000	Weak transcription	Adipose Nuclei	Adipose
29	chr6:38047800-38057400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:38047800-38062400	Weak transcription	HepG2	liver
31	chr6:38048000-38054000	Weak transcription	Fetal Brain Male	brain
32	chr6:38048000-38060800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:38048000-38073000	Weak transcription	Small Intestine	intestine
34	chr6:38048200-38056400	Weak transcription	K562	blood
35	chr6:38048400-38056400	Strong transcription	Primary B cells from cord blood	blood
36	chr6:38048600-38054800	Weak transcription	Colonic Mucosa	Colon
37	chr6:38048800-38055200	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:38048800-38055600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:38048800-38055600	Weak transcription	Brain Substantia Nigra	brain
40	chr6:38049000-38056200	Weak transcription	Brain Anterior Caudate	brain
41	chr6:38049000-38060800	Weak transcription	A549	lung
42	chr6:38049000-38061200	Weak transcription	NHDF-Ad	bronchial
43	chr6:38049200-38054200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:38049200-38058200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:38049200-38062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:38049200-38062400	Weak transcription	NHLF	lung
47	chr6:38049200-38062600	Weak transcription	HMEC	breast
48	chr6:38049200-38072600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:38049200-38077400	Weak transcription	Fetal Intestine Small	intestine
50	chr6:38049400-38062400	Weak transcription	Osteobl	bone

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