Variant report

Variant	rs6930340
Chromosome Location	chr6:38021463-38021464
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	chr6:38019894..38021573-chr6:38024031..38026573,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11751393	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11752354	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11753390	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11753809	1.00[ASN][1000 genomes]
rs11755262	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755824	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11757086	0.85[ASN][1000 genomes]
rs11757622	1.00[ASN][1000 genomes]
rs11757695	0.85[ASN][1000 genomes]
rs11759754	1.00[ASN][1000 genomes]
rs16890376	0.85[ASN][1000 genomes]
rs17512095	0.85[ASN][1000 genomes]
rs17648097	1.00[ASN][1000 genomes]
rs17648634	1.00[ASN][1000 genomes]
rs17648699	1.00[ASN][1000 genomes]
rs17649606	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17649630	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55898002	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56100831	1.00[ASN][1000 genomes]
rs56136126	1.00[ASN][1000 genomes]
rs59522592	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59810748	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60943435	0.85[ASN][1000 genomes]
rs60977329	0.85[ASN][1000 genomes]
rs61125348	0.85[ASN][1000 genomes]
rs61521259	1.00[ASN][1000 genomes]
rs61705055	1.00[ASN][1000 genomes]
rs68148876	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6910601	0.85[ASN][1000 genomes]
rs6925259	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849369	0.85[ASN][1000 genomes]
rs72850806	1.00[ASN][1000 genomes]
rs72850831	1.00[ASN][1000 genomes]
rs72850855	1.00[ASN][1000 genomes]
rs72850856	1.00[ASN][1000 genomes]
rs72850871	1.00[ASN][1000 genomes]
rs72850884	0.93[ASN][1000 genomes]
rs72852516	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72852536	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852555	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72852565	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72852588	0.85[ASN][1000 genomes]
rs7747199	0.85[ASN][1000 genomes]
rs7767466	0.85[ASN][1000 genomes]
rs994530	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37998600-38029200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:38001000-38028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:38002400-38029400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:38002800-38024400	Weak transcription	Fetal Stomach	stomach
6	chr6:38003000-38024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:38003000-38025000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:38003200-38024400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:38003600-38025400	Weak transcription	NHDF-Ad	bronchial
10	chr6:38004200-38024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:38004200-38029200	Weak transcription	Primary B cells from cord blood	blood
12	chr6:38006800-38024200	Weak transcription	Thymus	Thymus
13	chr6:38007400-38025400	Weak transcription	NH-A	brain
14	chr6:38008400-38028400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:38010600-38029000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:38011600-38024200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:38011800-38024200	Weak transcription	Psoas Muscle	Psoas
18	chr6:38011800-38029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:38012000-38022400	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:38012400-38029400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:38015400-38029600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:38015600-38029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:38016200-38029400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:38017200-38055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:38017400-38031000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:38018200-38025800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:38018400-38025600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:38018400-38030000	Weak transcription	Fetal Intestine Small	intestine
29	chr6:38018600-38025600	Weak transcription	Osteobl	bone
30	chr6:38018800-38023000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:38018800-38024400	Weak transcription	Aorta	Aorta
32	chr6:38019000-38022400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:38019000-38031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:38019400-38022400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:38019400-38029400	Weak transcription	Right Ventricle	heart
36	chr6:38019400-38029400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:38019600-38023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:38019600-38023200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:38019600-38024200	Weak transcription	Fetal Brain Male	brain
40	chr6:38020000-38022400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:38020000-38022600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:38020000-38029400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:38020200-38029200	Weak transcription	A549	lung
44	chr6:38020200-38030000	Weak transcription	Fetal Brain Female	brain
45	chr6:38020400-38024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:38020400-38046200	Weak transcription	Stomach Mucosa	stomach
47	chr6:38020800-38021600	Enhancers	K562	blood
48	chr6:38020800-38025400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:38020800-38029400	Weak transcription	Spleen	Spleen
50	chr6:38021000-38024200	Weak transcription	HMEC	breast

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