Variant report

Variant	rs2233431
Chromosome Location	chr6:44233175-44233176
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44231911..44234847-chr6:44237510..44240187,2	MCF-7	breast:
2	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
3	chr11:14379842..14380660-chr6:44232804..44233558,2	Hela-S3	cervix:
4	chr6:44119509..44120094-chr6:44232568..44233208,2	MCF-7	breast:
5	chr6:44233082..44237547-chr6:44353791..44357282,5	MCF-7	breast:
6	chr6:44140242..44141027-chr6:44232434..44233228,2	MCF-7	breast:
7	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
8	chr6:44231291..44234957-chr6:44353668..44356659,3	K562	blood:
9	chr6:44100637..44102842-chr6:44230503..44233422,2	MCF-7	breast:
10	chr6:44231156..44234544-chr6:44279395..44281173,3	MCF-7	breast:
11	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:
12	chr6:44231713..44233466-chr6:44264708..44267385,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178233	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000133818	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000096401	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2233427	0.96[AFR][1000 genomes]
rs2233434	0.96[AFR][1000 genomes]
rs28362854	0.96[AFR][1000 genomes]
rs28362856	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 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	chr6:44230000-44233200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr6:44230200-44233400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:44230400-44233200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:44230800-44233600	Active TSS	GM12878-XiMat	blood
5	chr6:44231200-44233400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:44231400-44233800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:44231600-44233400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr6:44231800-44233800	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr6:44232200-44233200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:44232200-44233400	Active TSS	Lung	lung
11	chr6:44232200-44233400	Active TSS	A549	lung
12	chr6:44232200-44233400	Active TSS	NHDF-Ad	bronchial
13	chr6:44232400-44233200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:44232400-44233400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:44232400-44233400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:44232400-44233400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:44232400-44233400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:44232400-44233400	Active TSS	Gastric	stomach
19	chr6:44232400-44233400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr6:44232400-44233400	Active TSS	Spleen	Spleen
21	chr6:44232400-44233600	Bivalent/Poised TSS	HepG2	liver
22	chr6:44232600-44233200	Active TSS	Stomach Mucosa	stomach
23	chr6:44232600-44233400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:44232600-44233400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:44232600-44233400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:44232600-44233400	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:44232600-44233400	Active TSS	Aorta	Aorta
28	chr6:44232600-44233400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:44232600-44233400	Active TSS	Esophagus	oesophagus
30	chr6:44232600-44233400	Active TSS	Fetal Kidney	kidney
31	chr6:44232600-44233400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr6:44232600-44233400	Active TSS	Small Intestine	intestine
33	chr6:44232600-44233400	Active TSS	HSMM	muscle
34	chr6:44232600-44233400	Active TSS	HSMMtube	muscle
35	chr6:44232600-44233400	Active TSS	NHEK	skin
36	chr6:44232600-44233600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr6:44232600-44233600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:44232600-44233600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr6:44232600-44233600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:44232600-44233600	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:44232600-44233800	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:44232800-44233200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
43	chr6:44232800-44233200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:44232800-44233200	Active TSS	Brain Angular Gyrus	brain
45	chr6:44232800-44233200	Transcr. at gene 5' and 3'	Right Atrium	heart
46	chr6:44232800-44233400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:44232800-44233400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:44232800-44233400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:44232800-44233400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:44232800-44233400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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