Variant report

Variant	rs10201998
Chromosome Location	chr2:74327140-74327141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74326343..74328844-chr2:74352521..74354991,2	MCF-7	breast:
2	chr2:74312908..74314556-chr2:74326976..74329312,2	K562	blood:
3	chr2:74206852..74213209-chr2:74326838..74331020,6	MCF-7	breast:
4	chr2:74325756..74329393-chr2:74345961..74349020,3	K562	blood:
5	chr2:74234336..74236088-chr2:74326202..74328646,2	MCF-7	breast:
6	chr2:74211836..74213595-chr2:74326351..74328832,2	MCF-7	breast:
7	chr2:74218371..74220942-chr2:74324790..74327724,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000237883	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10197238	0.83[EUR][1000 genomes]
rs10207365	0.83[EUR][1000 genomes]
rs10207954	0.83[EUR][1000 genomes]
rs10208256	0.83[EUR][1000 genomes]
rs10496194	0.83[EUR][1000 genomes]
rs11903339	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12328448	0.83[EUR][1000 genomes]
rs2272165	0.83[EUR][1000 genomes]
rs4852999	0.83[EUR][1000 genomes]
rs6546883	0.83[EUR][1000 genomes]
rs6705628	0.83[EUR][1000 genomes]
rs828867	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
2	chr2:74299800-74332000	Strong transcription	Dnd41	blood
3	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:74300800-74333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:74306000-74332400	Strong transcription	Fetal Intestine Small	intestine
7	chr2:74306400-74332000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:74306800-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:74307000-74332600	Strong transcription	Primary T cells from cord blood	blood
10	chr2:74307200-74331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:74307200-74332600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:74307200-74333000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:74307400-74330400	Strong transcription	Thymus	Thymus
14	chr2:74307600-74331000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:74307600-74332000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:74307600-74333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:74308200-74332600	Strong transcription	GM12878-XiMat	blood
18	chr2:74308400-74336200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:74308600-74333200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:74312200-74333800	Strong transcription	Fetal Stomach	stomach
21	chr2:74314400-74331000	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:74314400-74333400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:74316000-74328200	Strong transcription	Primary B cells from cord blood	blood
24	chr2:74316600-74334000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:74317200-74335000	Weak transcription	NH-A	brain
26	chr2:74317400-74330800	Strong transcription	Placenta	Placenta
27	chr2:74317800-74328800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:74318000-74329800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:74319200-74332800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:74321200-74329200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:74321400-74329200	Weak transcription	Osteobl	bone
32	chr2:74322000-74333800	Weak transcription	Fetal Kidney	kidney
33	chr2:74322200-74346600	Weak transcription	Hela-S3	cervix
34	chr2:74323000-74327600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:74323000-74329800	Weak transcription	HSMM	muscle
36	chr2:74324400-74330400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:74324400-74330400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:74324400-74332400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:74324600-74327400	Strong transcription	Lung	lung
40	chr2:74324600-74329400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:74324600-74332600	Strong transcription	Fetal Intestine Large	intestine
42	chr2:74324800-74330000	Strong transcription	Colonic Mucosa	Colon
43	chr2:74325600-74328000	Strong transcription	Spleen	Spleen
44	chr2:74325600-74332400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:74325600-74333800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:74325800-74327600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:74325800-74330400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:74325800-74330600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:74325800-74330600	Strong transcription	Adipose Nuclei	Adipose
50	chr2:74325800-74330600	Strong transcription	Pancreas	Pancrea

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