Variant report

Variant	rs10205187
Chromosome Location	chr2:113333410-113333411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113318002..113320505-chr2:113330905..113333469,2	MCF-7	breast:
2	chr2:113308061..113310862-chr2:113332037..113334578,2	K562	blood:
3	chr2:113332582..113336082-chr2:113340503..113343109,3	K562	blood:
4	chr2:113298583..113301230-chr2:113332554..113334475,2	K562	blood:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction
ENSG00000125611	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10169290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10169344	1.00[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10183849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10200067	0.81[ASN][1000 genomes]
rs12469608	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs13395691	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395779	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13412193	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13413001	0.90[ASN][1000 genomes]
rs13424021	0.87[ASN][1000 genomes]
rs1583616	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2241804	0.82[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34179430	0.81[JPT][hapmap]
rs3748026	0.89[CEU][hapmap];0.88[GIH][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3789724	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3961914	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57339041	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59033131	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60489148	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60518507	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61669219	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62158580	0.81[ASN][1000 genomes]
rs62158582	0.90[ASN][1000 genomes]
rs62158584	0.90[ASN][1000 genomes]
rs62158585	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62158586	0.90[ASN][1000 genomes]
rs62158591	0.93[ASN][1000 genomes]
rs62158643	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62158644	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7559710	0.81[JPT][hapmap]
rs7565714	0.87[JPT][hapmap]
rs7576952	0.81[JPT][hapmap]
rs9308672	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9808491	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10205187	POLR1B	cis	Esophagus Muscularis	GTEx
rs10205187	POLR1B	cis	Thyroid	GTEx
rs10205187	POLR1B	cis	Adipose Subcutaneous	GTEx
rs10205187	POLR1B	cis	Whole Blood	GTEx
rs10205187	POLR1B	cis	Artery Tibial	GTEx
rs10205187	POLR1B	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113301200-113340200	Weak transcription	Right Atrium	heart
2	chr2:113301200-113341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113303000-113334400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:113303000-113334400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:113303000-113335200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113303200-113334200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:113303200-113334600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:113303400-113334400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:113303400-113334600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:113303600-113334000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:113303600-113334400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:113303600-113334400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:113303600-113334400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:113303600-113334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:113303600-113334600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:113303600-113334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:113303600-113334800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:113303600-113335000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113303600-113335000	Strong transcription	Fetal Thymus	thymus
20	chr2:113303600-113335200	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:113303800-113334800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:113304400-113333600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:113304400-113334200	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr2:113304400-113334400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:113304400-113335000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:113304600-113334400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:113305400-113334000	Strong transcription	Adipose Nuclei	Adipose
28	chr2:113305400-113334800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:113306600-113334400	Strong transcription	Liver	Liver
30	chr2:113306800-113334600	Strong transcription	HepG2	liver
31	chr2:113312400-113334400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:113314600-113335000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:113314800-113334600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr2:113315400-113333800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr2:113315600-113335000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:113320800-113334200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:113320800-113334800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:113320800-113335000	Strong transcription	A549	lung
39	chr2:113321000-113334400	Strong transcription	Fetal Intestine Large	intestine
40	chr2:113321200-113334200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:113321200-113335000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:113321600-113334400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:113321600-113334600	Strong transcription	NHEK	skin
44	chr2:113322200-113334200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:113323800-113333800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:113324600-113334000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:113324600-113334000	Strong transcription	HUVEC	blood vessel
48	chr2:113324600-113334200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:113324600-113334600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:113324800-113334000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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