Variant report

Variant	rs6937357
Chromosome Location	chr6:30640324-30640325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30572488..30575040-chr6:30638156..30640619,2	K562	blood:
2	chr6:30607674..30610215-chr6:30640154..30642448,2	K562	blood:
3	chr6:30625710..30628621-chr6:30639335..30642067,3	MCF-7	breast:
4	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
5	chr6:30612907..30616336-chr6:30637849..30642816,6	MCF-7	breast:
6	chr6:30524337..30526594-chr6:30639300..30642011,2	K562	blood:
7	chr6:30619664..30622989-chr6:30637917..30640970,3	MCF-7	breast:
8	chr6:30608479..30611189-chr6:30639611..30641911,2	MCF-7	breast:
9	chr6:30638422..30642374-chr6:30687329..30691225,7	MCF-7	breast:
10	chr6:30639198..30640746-chr6:30685317..30687045,2	MCF-7	breast:
11	chr6:30581230..30587315-chr6:30638443..30644329,12	MCF-7	breast:
12	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
13	chr6:30457060..30459448-chr6:30640175..30642005,2	K562	blood:
14	chr6:30613067..30618740-chr6:30634507..30640371,8	K562	blood:
15	chr6:30579823..30587267-chr6:30636296..30642513,15	MCF-7	breast:
16	chr6:30594510..30596301-chr6:30639461..30642198,2	MCF-7	breast:
17	chr6:30639079..30642784-chr6:30705636..30712325,12	MCF-7	breast:
18	chr6:30523729..30526402-chr6:30638868..30641840,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272273	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000222894	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1079687	0.94[ASN][1000 genomes]
rs1109146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075015	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239886	0.88[ASN][1000 genomes]
rs2269702	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2269707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284172	0.82[EUR][1000 genomes]
rs2285321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394392	0.94[ASN][1000 genomes]
rs25497	0.82[EUR][1000 genomes]
rs28986465	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3094090	0.86[ASN][1000 genomes]
rs3132595	0.94[ASN][1000 genomes]
rs3132608	0.94[ASN][1000 genomes]
rs55810373	0.82[EUR][1000 genomes]
rs59378621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61486053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61733213	0.88[AFR][1000 genomes]
rs6900113	0.83[AFR][1000 genomes]
rs6924270	0.88[ASN][1000 genomes]
rs6929626	0.88[ASN][1000 genomes]
rs6929698	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6931293	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7762626	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7773711	0.89[AFR][1000 genomes]
rs9295901	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295905	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295908	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295909	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9461623	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461624	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461625	0.82[EUR][1000 genomes]
rs9468803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468807	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9468811	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468812	0.88[AFR][1000 genomes]
rs9468813	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468814	0.88[ASN][1000 genomes]
rs9468816	0.82[EUR][1000 genomes]
rs9468817	0.82[EUR][1000 genomes]
rs9500863	0.82[EUR][1000 genomes]
rs9500866	0.82[EUR][1000 genomes]
rs9500867	0.82[EUR][1000 genomes]
rs9501027	0.82[EUR][1000 genomes]
rs9501338	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9501481	0.88[ASN][1000 genomes]
rs9501482	0.88[ASN][1000 genomes]
rs9501483	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9501484	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
7	nsv884094	chr6:30637998-30660611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv823472	chr6:30638581-30644218	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30639000-30641000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30639200-30641600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:30639400-30640400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr6:30639400-30640400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:30639400-30640400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:30639400-30640400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:30639600-30640400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:30639600-30640400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr6:30639600-30640400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr6:30639600-30640400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr6:30639600-30640400	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr6:30639600-30640400	Flanking Active TSS	Placenta	Placenta
13	chr6:30639600-30640400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:30639600-30640400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr6:30639600-30640600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:30639600-30640600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr6:30639600-30641000	Active TSS	HSMM	muscle
18	chr6:30639600-30641000	Active TSS	HSMMtube	muscle
19	chr6:30639600-30641200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:30639600-30641200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:30639600-30641200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:30639600-30641200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:30639600-30641200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:30639600-30641200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr6:30639600-30641200	Active TSS	A549	lung
26	chr6:30639800-30640400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:30639800-30640400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr6:30639800-30640400	Flanking Active TSS	Liver	Liver
29	chr6:30639800-30640400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr6:30639800-30640400	Flanking Active TSS	Colonic Mucosa	Colon
31	chr6:30639800-30640400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr6:30639800-30640400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr6:30639800-30640400	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr6:30639800-30640400	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr6:30639800-30640400	Flanking Active TSS	Fetal Thymus	thymus
36	chr6:30639800-30640400	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr6:30639800-30640400	Active TSS	Right Atrium	heart
38	chr6:30639800-30640600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr6:30639800-30640600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr6:30639800-30640600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:30639800-30640800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:30639800-30640800	Active TSS	NHDF-Ad	bronchial
43	chr6:30639800-30641000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr6:30639800-30641000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr6:30639800-30641000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:30639800-30641000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:30639800-30641000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:30639800-30641000	Active TSS	Right Ventricle	heart
49	chr6:30639800-30641000	Active TSS	Hela-S3	cervix
50	chr6:30639800-30641000	Active TSS	NHLF	lung

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