Variant report

Variant	rs1920983
Chromosome Location	chr2:173294950-173294951
allele	C/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	ZKSCAN1	chr2:173294902-173295130	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:173294911-173295031	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:173294946-173295084	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr2:173294901-173295194	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:173218614..173220137-chr2:173294190..173296145,2	K562	blood:
2	chr2:173291261..173294444-chr2:173294873..173298615,3	K562	blood:
3	chr2:173272055..173273820-chr2:173294658..173297401,2	MCF-7	breast:
4	chr2:173294248..173297165-chr2:173302746..173304421,2	MCF-7	breast:
5	chr2:173290254..173291940-chr2:173293674..173296240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226963	TF binding region
ENSG00000091409	Chromatin interaction
ENSG00000226963	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10183079	1.00[AMR][1000 genomes]
rs11885097	1.00[AMR][1000 genomes]
rs2884227	1.00[AMR][1000 genomes]
rs4246628	1.00[AMR][1000 genomes]
rs4972830	1.00[AMR][1000 genomes]
rs6433361	1.00[AMR][1000 genomes]
rs6732437	1.00[AMR][1000 genomes]
rs73976752	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173291600-173295200	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:173291800-173295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:173292000-173295200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:173292000-173295600	Active TSS	Fetal Intestine Large	intestine
5	chr2:173292000-173296600	Active TSS	Right Atrium	heart
6	chr2:173292200-173295000	Active TSS	Brain Anterior Caudate	brain
7	chr2:173292200-173295200	Active TSS	Colonic Mucosa	Colon
8	chr2:173292200-173295200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
9	chr2:173292200-173295600	Active TSS	Lung	lung
10	chr2:173292200-173295800	Active TSS	HMEC	breast
11	chr2:173292200-173296000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:173292200-173296000	Active TSS	Duodenum Mucosa	Duodenum
13	chr2:173292200-173296200	Active TSS	Right Ventricle	heart
14	chr2:173292600-173295000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr2:173292800-173295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:173293000-173295000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr2:173293200-173295600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:173293200-173295800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr2:173293400-173295000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr2:173293400-173295000	Flanking Active TSS	HUVEC	blood vessel
21	chr2:173293400-173297800	Transcr. at gene 5' and 3'	NHEK	skin
22	chr2:173293600-173295000	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:173293600-173295200	Active TSS	Fetal Intestine Small	intestine
24	chr2:173293600-173295200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:173293600-173295600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:173293600-173296000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:173293800-173295000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:173293800-173295600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:173294000-173295000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:173294000-173295000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:173294000-173295000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr2:173294000-173295000	Active TSS	Thymus	Thymus
33	chr2:173294000-173296000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
34	chr2:173294000-173297600	Weak transcription	Spleen	Spleen
35	chr2:173294000-173301800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:173294200-173295000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:173294200-173295000	Enhancers	Fetal Heart	heart
38	chr2:173294200-173295000	Flanking Active TSS	HSMM	muscle
39	chr2:173294200-173295200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr2:173294200-173295200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:173294200-173295600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:173294200-173302600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:173294400-173295000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr2:173294400-173295400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:173294400-173295800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr2:173294400-173295800	Active TSS	HSMMtube	muscle
47	chr2:173294400-173296400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:173294400-173296600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:173294400-173298000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:173294400-173299200	Weak transcription	Placenta	Placenta

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