Variant report

Variant	rs28381351
Chromosome Location	chr6:31710120-31710121
allele	C/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	chr6:31709734-31711172	K562	blood:	n/a	n/a
2	POLR2A	chr6:31709977-31710333	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:31706108-31713361	K562	blood:	n/a	n/a
4	POLR2A	chr6:31705222-31711233	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31620775..31623476-chr6:31707593..31710385,2	MCF-7	breast:
2	chr6:31706404..31710413-chr6:31739544..31742193,3	MCF-7	breast:
3	chr6:31707530..31710458-chr6:31763602..31765832,2	MCF-7	breast:
4	chr6:31709722..31711347-chr6:31926698..31929061,2	K562	blood:

Variant related genes	Relation type
CLIC1	TF binding region
MSH5	TF binding region
ENSG00000204351	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000204356	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11575849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28381339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35440917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:112 , 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	chr6:31708400-31711400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:31708400-31714800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:31708400-31715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:31708400-31715000	Weak transcription	Esophagus	oesophagus
7	chr6:31708400-31715000	Weak transcription	Ovary	ovary
8	chr6:31708400-31715000	Weak transcription	Pancreas	Pancrea
9	chr6:31708400-31717600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:31708400-31727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:31708400-31729600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:31708400-31731000	Weak transcription	HSMMtube	muscle
13	chr6:31708400-31731200	Weak transcription	Gastric	stomach
14	chr6:31708400-31731200	Weak transcription	Lung	lung
15	chr6:31708400-31731200	Weak transcription	Right Atrium	heart
16	chr6:31708600-31710200	Enhancers	Adipose Nuclei	Adipose
17	chr6:31708600-31714800	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:31708600-31715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:31708600-31715000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:31708600-31715200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:31708600-31717000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:31708600-31728200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:31708600-31729400	Weak transcription	Fetal Lung	lung
24	chr6:31708600-31731200	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:31708600-31732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:31708600-31734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:31708800-31710400	Weak transcription	HUVEC	blood vessel
28	chr6:31708800-31710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:31708800-31711200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:31708800-31711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:31708800-31713400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:31708800-31714600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:31708800-31714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:31708800-31715000	Weak transcription	Fetal Brain Female	brain
35	chr6:31708800-31716200	Strong transcription	Fetal Stomach	stomach
36	chr6:31708800-31717000	Weak transcription	Small Intestine	intestine
37	chr6:31708800-31723200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:31708800-31727400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:31708800-31727600	Weak transcription	Spleen	Spleen
40	chr6:31708800-31731200	Weak transcription	Brain Anterior Caudate	brain
41	chr6:31708800-31737400	Weak transcription	Liver	Liver
42	chr6:31709000-31710200	Genic enhancers	Fetal Thymus	thymus
43	chr6:31709000-31710600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:31709000-31711600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:31709000-31711800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:31709000-31712000	Strong transcription	Fetal Muscle Leg	muscle
47	chr6:31709000-31712400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:31709000-31712600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:31709000-31713400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:31709000-31715000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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