Variant report

Variant	rs34612917
Chromosome Location	chr1:153941880-153941881
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153941657-153942031	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:153941826-153941883	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153941532..153944336-chr20:48806471..48808727,2	MCF-7	breast:
2	chr1:153939660..153941891-chr17:61903372..61905744,2	MCF-7	breast:
3	chr1:153581488..153584174-chr1:153940194..153943077,2	MCF-7	breast:
4	chr1:153742918..153749628-chr1:153933334..153942122,16	MCF-7	breast:
5	chr1:153580618..153585586-chr1:153936399..153942199,7	MCF-7	breast:
6	chr1:153938202..153942686-chr1:154154566..154158952,5	MCF-7	breast:
7	chr1:153940285..153941977-chr1:154154150..154156390,2	MCF-7	breast:
8	chr1:153939104..153942755-chr1:154191760..154194945,4	MCF-7	breast:
9	chr1:153747624..153749302-chr1:153940489..153942860,2	MCF-7	breast:
10	chr1:153939194..153941936-chr6:27857839..27860043,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC39A1	TF binding region
ENSG00000188643	Chromatin interaction
ENSG00000108592	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000172216	Chromatin interaction
ENSG00000087191	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143549	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11265027	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11265040	1.00[YRI][hapmap]
rs11586701	1.00[YRI][hapmap]
rs11590099	1.00[YRI][hapmap]
rs12563892	1.00[CHD][hapmap]
rs12755932	1.00[CHD][hapmap]
rs16835602	1.00[CHD][hapmap]
rs35138279	1.00[CHD][hapmap]
rs4845357	1.00[YRI][hapmap]

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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers 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	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv532552	chr1:153912047-153950752	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153939400-153942000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:153940400-153942000	Enhancers	Spleen	Spleen
3	chr1:153940400-153942200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:153940600-153942000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr1:153940800-153944200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:153940800-153945600	Weak transcription	Primary T cells from cord blood	blood
7	chr1:153940800-153946200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:153940800-153947000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:153941000-153942000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:153941000-153942000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:153941000-153942400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:153941000-153944000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:153941000-153944200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:153941000-153946000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:153941000-153946200	Weak transcription	Small Intestine	intestine
16	chr1:153941200-153942000	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:153941200-153942000	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr1:153941200-153942000	Enhancers	Fetal Heart	heart
19	chr1:153941200-153942000	Enhancers	Fetal Thymus	thymus
20	chr1:153941200-153942000	Enhancers	Pancreas	Pancrea
21	chr1:153941200-153942000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:153941200-153944000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:153941200-153944800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:153941200-153944800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:153941200-153944800	Weak transcription	HSMM	muscle
26	chr1:153941200-153945000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:153941200-153945000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:153941200-153945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:153941200-153945400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:153941200-153945400	Weak transcription	Brain Substantia Nigra	brain
31	chr1:153941200-153945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:153941200-153945600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:153941200-153945600	Weak transcription	Aorta	Aorta
34	chr1:153941200-153945600	Weak transcription	Brain Angular Gyrus	brain
35	chr1:153941200-153945600	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:153941200-153945600	Weak transcription	Esophagus	oesophagus
37	chr1:153941200-153945600	Weak transcription	Left Ventricle	heart
38	chr1:153941200-153945800	Weak transcription	Ovary	ovary
39	chr1:153941200-153945800	Weak transcription	A549	lung
40	chr1:153941200-153945800	Weak transcription	HSMMtube	muscle
41	chr1:153941200-153946000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:153941200-153946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:153941200-153946200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:153941200-153946200	Weak transcription	Colonic Mucosa	Colon
45	chr1:153941200-153946400	Weak transcription	NHDF-Ad	bronchial
46	chr1:153941200-153948200	Weak transcription	Stomach Mucosa	stomach
47	chr1:153941200-153948600	Weak transcription	Psoas Muscle	Psoas
48	chr1:153941200-153949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:153941400-153942000	Enhancers	Primary B cells from cord blood	blood
50	chr1:153941400-153942000	Enhancers	Duodenum Mucosa	Duodenum

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