Variant report

Variant	rs10173943
Chromosome Location	chr2:210892489-210892490
allele	A/G
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	chr2:210892386-210892519	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:210892433-210894868	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:210892297-210892648	U87	brain:	n/a	n/a
4	POLR2A	chr2:210892297-210892675	U87	brain:	n/a	n/a
5	POLR2A	chr2:210890345-210900284	K562	blood:	n/a	n/a
6	POLR2A	chr2:210892282-210894168	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:210892423-210892948	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210892466..210894777-chr2:210895081..210897160,2	K562	blood:
2	chr2:210890364..210892703-chr2:211032232..211034302,2	K562	blood:

Variant related genes	Relation type
ENSG00000272807	TF binding region
ENSG00000229127	TF binding region
ENSG00000229127	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10197463	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889168	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2110315	1.00[YRI][hapmap]
rs2539008	0.90[YRI][hapmap];0.87[AMR][1000 genomes]
rs2539009	0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs2539867	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6761902	0.94[YRI][hapmap]
rs73063904	0.89[AFR][1000 genomes]
rs73063905	0.89[AFR][1000 genomes]
rs7595390	0.90[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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210868000-210920000	Weak transcription	Spleen	Spleen
2	chr2:210868400-210899000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:210871000-210893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:210871200-210893000	Strong transcription	Dnd41	blood
5	chr2:210871200-210893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:210871200-210911400	Weak transcription	Psoas Muscle	Psoas
7	chr2:210872400-210893800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:210872600-210907600	Weak transcription	Stomach Mucosa	stomach
9	chr2:210872800-210894200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:210873000-210893800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:210874000-210920800	Weak transcription	Fetal Heart	heart
12	chr2:210874200-210893800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:210875000-210893200	Strong transcription	Liver	Liver
14	chr2:210879400-210894200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:210880200-210896200	Weak transcription	K562	blood
16	chr2:210881800-210892800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:210881800-210892800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:210881800-210953000	Weak transcription	Gastric	stomach
19	chr2:210882400-210911400	Weak transcription	Esophagus	oesophagus
20	chr2:210882400-210914600	Weak transcription	Small Intestine	intestine
21	chr2:210882400-210919400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:210882400-210922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:210882400-210927800	Weak transcription	Right Ventricle	heart
24	chr2:210882800-210911400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:210883000-210920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:210883400-210892800	Weak transcription	Thymus	Thymus
27	chr2:210883400-210911200	Weak transcription	Aorta	Aorta
28	chr2:210883400-210911200	Weak transcription	Pancreas	Pancrea
29	chr2:210883600-210911400	Weak transcription	Lung	lung
30	chr2:210884600-210911000	Weak transcription	Ovary	ovary
31	chr2:210884600-210912600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:210885200-210896200	Weak transcription	NHEK	skin
33	chr2:210885200-210914400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:210887200-210893600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:210887200-210896600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:210887600-210892600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:210887800-210892600	Strong transcription	Brain Germinal Matrix	brain
38	chr2:210887800-210919600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:210888000-210913400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:210888200-210905400	Weak transcription	Fetal Brain Female	brain
41	chr2:210888400-210892800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:210888400-210897000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:210889000-210893600	Weak transcription	Fetal Kidney	kidney
44	chr2:210889000-210898400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:210889000-210905400	Weak transcription	NHDF-Ad	bronchial
46	chr2:210889000-210909200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:210889000-210911400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:210889000-210911400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:210889000-210912200	Weak transcription	HMEC	breast
50	chr2:210889000-210919400	Weak transcription	HSMMtube	muscle

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