Variant report

Variant	rs852375
Chromosome Location	chr7:5675700-5675701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5630981..5635374-chr7:5673788..5678514,7	K562	blood:
2	chr7:5673316..5675722-chr7:5676107..5679530,3	K562	blood:
3	chr7:5661377..5664356-chr7:5673284..5675740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10232762	0.83[EUR][1000 genomes]
rs10241310	1.00[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs10259773	0.83[EUR][1000 genomes]
rs2287593	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs2287595	0.89[JPT][hapmap];1.00[MEX][hapmap]
rs28417882	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801016	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3801019	0.83[EUR][1000 genomes]
rs3807580	1.00[MEX][hapmap]
rs3823683	0.83[EUR][1000 genomes]
rs4720640	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs4724713	0.83[EUR][1000 genomes]
rs4724718	0.82[CEU][hapmap]
rs61203027	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6463506	0.83[EUR][1000 genomes]
rs6463507	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs6956960	0.83[EUR][1000 genomes]
rs6960381	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs6971289	0.83[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap]
rs710941	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777831	0.83[EUR][1000 genomes]
rs7796461	0.83[EUR][1000 genomes]
rs7800691	0.83[EUR][1000 genomes]
rs7803308	0.83[EUR][1000 genomes]
rs7804319	0.89[JPT][hapmap]
rs7806110	1.00[MEX][hapmap]
rs852257	0.83[EUR][1000 genomes]
rs852258	0.83[EUR][1000 genomes]
rs852265	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs852266	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs852267	0.83[EUR][1000 genomes]
rs852376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852397	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs852402	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs852409	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852410	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs852415	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs852420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852421	0.91[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852448	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852450	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852457	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852461	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852472	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860425	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs888583	0.83[EUR][1000 genomes]
rs9648578	0.83[EUR][1000 genomes]
rs9691118	0.89[JPT][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
7	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
8	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
9	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
10	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
11	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
12	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
16	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5669600-5675800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:5669800-5677600	Genic enhancers	Fetal Stomach	stomach
4	chr7:5670400-5675800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:5671800-5682800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:5672000-5681200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:5672800-5677200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:5672800-5677400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:5673000-5677200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:5673000-5677200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:5673000-5677600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:5673000-5677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:5673000-5677800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:5673200-5676400	Enhancers	Fetal Brain Female	brain
15	chr7:5673200-5676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:5673200-5677000	Enhancers	Ovary	ovary
17	chr7:5673200-5677200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:5673200-5677200	Enhancers	Brain Germinal Matrix	brain
19	chr7:5673200-5677200	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:5673200-5677200	Enhancers	Stomach Mucosa	stomach
21	chr7:5673200-5677400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:5673200-5677800	Enhancers	HUVEC	blood vessel
23	chr7:5673200-5681000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:5673400-5677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:5673400-5677800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:5673600-5675800	Enhancers	Liver	Liver
27	chr7:5673600-5676200	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr7:5673600-5677000	Enhancers	Right Atrium	heart
29	chr7:5673800-5677800	Enhancers	Pancreas	Pancrea
30	chr7:5673800-5681800	Strong transcription	Primary T cells from cord blood	blood
31	chr7:5674000-5675800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:5674000-5677400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:5674000-5677400	Enhancers	Colon Smooth Muscle	Colon
34	chr7:5674000-5678800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:5674000-5679200	Enhancers	HMEC	breast
36	chr7:5674200-5676200	Strong transcription	A549	lung
37	chr7:5674200-5677200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:5674200-5677400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:5674200-5681200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:5674400-5676200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:5674400-5676200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:5674400-5676400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:5674400-5676600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:5674400-5677000	Enhancers	Fetal Muscle Trunk	muscle
45	chr7:5674400-5677200	Enhancers	Fetal Kidney	kidney
46	chr7:5674400-5677400	Enhancers	Osteobl	bone
47	chr7:5674400-5677600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:5674400-5677600	Enhancers	NHLF	lung
49	chr7:5674400-5681400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:5674600-5675800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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