Variant report

Variant	rs4947330
Chromosome Location	chr6:31713785-31713786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31712951..31714634-chr6:31717603..31719135,2	MCF-7	breast:
2	chr6:31711834..31714451-chr6:31829809..31833042,3	K562	blood:
3	chr6:31710678..31714958-chr6:31739473..31744061,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204385	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204386	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11964779	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965323	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11966331	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207552	1.00[ASN][1000 genomes]
rs2254083	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2295667	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453162	1.00[EUR][1000 genomes]
rs34467149	1.00[ASN][1000 genomes]
rs4713482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947252	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947329	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56662332	0.94[AFR][1000 genomes]
rs59002496	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59114240	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60149397	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60559550	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60900316	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73398259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7382084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	257 gene(s)	inside rSNPs	diseases
15	nsv819978	chr6:31713259-31721119	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31707400-31724600	Weak transcription	Fetal Heart	heart
2	chr6:31708200-31733800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:31708400-31714800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:31708400-31715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:31708400-31715000	Weak transcription	Esophagus	oesophagus
6	chr6:31708400-31715000	Weak transcription	Ovary	ovary
7	chr6:31708400-31715000	Weak transcription	Pancreas	Pancrea
8	chr6:31708400-31717600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:31708400-31727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:31708400-31729600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:31708400-31731000	Weak transcription	HSMMtube	muscle
12	chr6:31708400-31731200	Weak transcription	Gastric	stomach
13	chr6:31708400-31731200	Weak transcription	Lung	lung
14	chr6:31708400-31731200	Weak transcription	Right Atrium	heart
15	chr6:31708600-31714800	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:31708600-31715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:31708600-31715000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:31708600-31715200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:31708600-31717000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:31708600-31728200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:31708600-31729400	Weak transcription	Fetal Lung	lung
22	chr6:31708600-31731200	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:31708600-31732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:31708600-31734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:31708800-31714600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:31708800-31714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:31708800-31715000	Weak transcription	Fetal Brain Female	brain
28	chr6:31708800-31716200	Strong transcription	Fetal Stomach	stomach
29	chr6:31708800-31717000	Weak transcription	Small Intestine	intestine
30	chr6:31708800-31723200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:31708800-31727400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:31708800-31727600	Weak transcription	Spleen	Spleen
33	chr6:31708800-31731200	Weak transcription	Brain Anterior Caudate	brain
34	chr6:31708800-31737400	Weak transcription	Liver	Liver
35	chr6:31709000-31715000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:31709000-31718200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:31709000-31719000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:31709000-31720400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:31709000-31720400	Weak transcription	NH-A	brain
40	chr6:31709000-31720400	Weak transcription	NHDF-Ad	bronchial
41	chr6:31709000-31721000	Weak transcription	Brain Substantia Nigra	brain
42	chr6:31709000-31722400	Weak transcription	Fetal Brain Male	brain
43	chr6:31709000-31726800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:31709000-31727000	Weak transcription	Primary T cells from cord blood	blood
45	chr6:31709000-31727600	Weak transcription	Colonic Mucosa	Colon
46	chr6:31709000-31738200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:31709200-31715000	Weak transcription	HMEC	breast
48	chr6:31709200-31715200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:31709200-31716000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:31709200-31727200	Weak transcription	Brain Germinal Matrix	brain

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