Variant report

Variant	rs2734882
Chromosome Location	chr7:100206129-100206130
allele	G/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	chr7:100206066-100206718	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr7:100206053-100206623	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:100204507-100206917	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr7:100206036-100206528	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
2	chr7:100205654..100208521-chr7:100423904..100425717,2	K562	blood:
3	chr7:100199287..100203860-chr7:100204915..100211773,14	MCF-7	breast:
4	chr7:100202004..100207768-chr7:100269368..100273670,5	MCF-7	breast:

Variant related genes	Relation type
MOSPD3	TF binding region
PCOLCE-AS1	TF binding region
ENSG00000224729	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000146828	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12539083	1.00[CEU][hapmap]
rs13222543	1.00[MEX][hapmap]
rs17162408	1.00[MEX][hapmap]
rs221791	1.00[CHD][hapmap]
rs2686810	1.00[CEU][hapmap]
rs35379858	1.00[CHD][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
3	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
4	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
5	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers 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 target site	74 gene(s)	inside rSNPs	diseases
6	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
10	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100203000-100206200	Strong transcription	Osteobl	bone
2	chr7:100203000-100206600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:100203200-100206400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:100203200-100206600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:100203200-100208800	Weak transcription	Dnd41	blood
6	chr7:100203200-100209400	Weak transcription	Fetal Lung	lung
7	chr7:100203400-100209000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:100203600-100206200	Strong transcription	NHLF	lung
9	chr7:100203600-100209000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:100203600-100209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:100203600-100209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:100203600-100209200	Weak transcription	Right Atrium	heart
13	chr7:100203600-100209200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:100203600-100209400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:100203800-100208800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:100203800-100208800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:100203800-100208800	Weak transcription	Placenta	Placenta
18	chr7:100203800-100209000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:100203800-100209000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:100203800-100209000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:100203800-100209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:100203800-100209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:100203800-100209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:100203800-100209000	Weak transcription	Psoas Muscle	Psoas
25	chr7:100203800-100209200	Weak transcription	Adipose Nuclei	Adipose
26	chr7:100203800-100209400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:100203800-100209400	Weak transcription	Left Ventricle	heart
28	chr7:100203800-100209800	Weak transcription	Spleen	Spleen
29	chr7:100204000-100207600	Weak transcription	Hela-S3	cervix
30	chr7:100204000-100208800	Weak transcription	Liver	Liver
31	chr7:100204000-100209000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:100204000-100209200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:100204000-100209400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:100204000-100209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:100204000-100209400	Weak transcription	Ovary	ovary
36	chr7:100204200-100206400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr7:100204200-100206400	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:100204200-100206600	Strong transcription	Fetal Stomach	stomach
39	chr7:100204200-100209000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:100204200-100209000	Weak transcription	Pancreas	Pancrea
41	chr7:100204200-100209400	Weak transcription	Right Ventricle	heart
42	chr7:100204400-100208200	Weak transcription	K562	blood
43	chr7:100204400-100209200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:100204400-100209400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:100204600-100206200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:100204800-100206200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:100205000-100206200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:100205200-100207600	Weak transcription	HUVEC	blood vessel
49	chr7:100205200-100209200	Weak transcription	A549	lung
50	chr7:100205200-100209200	Weak transcription	NH-A	brain

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