Variant report

Variant	rs10174635
Chromosome Location	chr2:47293684-47293685
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	RCOR1	chr2:47292460-47293966	IMR90	lung:	n/a	n/a
2	TEAD4	chr2:47292864-47293835	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr2:47292479-47293831	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr2:47292829-47293840	SK-N-SH	brain:	n/a	n/a
5	RXRA	chr2:47292900-47293715	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr2:47292786-47293775	SK-N-SH	brain:	n/a	chr2:47293300-47293309
7	PBX3	chr2:47292727-47293779	SK-N-SH	brain:	n/a	n/a
8	EP300	chr2:47292840-47293788	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr2:47292799-47293736	SK-N-SH	brain:	n/a	n/a
10	FOSL2	chr2:47292889-47293724	SK-N-SH	brain:	n/a	chr2:47293536-47293544 chr2:47293535-47293545
11	NFIC	chr2:47292666-47293761	SK-N-SH	brain:	n/a	n/a
12	EP300	chr2:47292731-47293839	SK-N-SH	brain:	n/a	n/a
13	RXRA	chr2:47292577-47293871	SK-N-SH	brain:	n/a	n/a
14	MAX	chr2:47292776-47293709	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr2:47292625-47293887	SK-N-SH	brain:	n/a	n/a
16	JUND	chr2:47292907-47293690	SK-N-SH	brain:	n/a	chr2:47293536-47293544 chr2:47293535-47293545
17	GATA3	chr2:47292820-47293764	SK-N-SH	brain:	n/a	chr2:47293300-47293309

No.	Distal block	Cell Line	Cell type
1	chr2:47288795..47291567-chr2:47291902..47294947,3	K562	blood:
2	chr2:47292470..47294231-chr2:47312164..47314753,2	K562	blood:
3	chr2:47292091..47294356-chr2:47400826..47402359,2	K562	blood:
4	chr2:47287750..47290295-chr2:47291902..47294626,3	K562	blood:

Variant related genes	Relation type
ENSG00000225187	TF binding region
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10191558	0.83[AMR][1000 genomes]
rs17036191	0.83[AMR][1000 genomes]
rs28708409	0.91[AMR][1000 genomes]
rs6708855	0.83[AMR][1000 genomes]
rs6733891	0.83[AMR][1000 genomes]
rs6749079	0.83[AMR][1000 genomes]
rs919878	0.91[AMR][1000 genomes]
rs919879	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47284400-47296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:47284400-47296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:47284600-47296000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:47284600-47298400	Strong transcription	Thymus	Thymus
8	chr2:47285000-47295000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:47285000-47295200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:47285000-47295400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:47285200-47295800	Strong transcription	Primary T cells from cord blood	blood
12	chr2:47286400-47295400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:47286600-47295000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:47286800-47296000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:47286800-47296600	Strong transcription	Fetal Thymus	thymus
16	chr2:47287400-47296200	Strong transcription	Primary B cells from cord blood	blood
17	chr2:47287800-47294600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:47287800-47296600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:47288000-47293800	Enhancers	Stomach Mucosa	stomach
20	chr2:47288000-47295000	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr2:47288000-47300400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:47288400-47293800	Enhancers	HSMMtube	muscle
23	chr2:47288400-47296400	Enhancers	Fetal Heart	heart
24	chr2:47289400-47294600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:47289600-47295000	Weak transcription	Gastric	stomach
26	chr2:47290200-47295800	Genic enhancers	HepG2	liver
27	chr2:47290400-47299000	Genic enhancers	Fetal Muscle Leg	muscle
28	chr2:47290600-47294200	Enhancers	HSMM	muscle
29	chr2:47290600-47296400	Genic enhancers	A549	lung
30	chr2:47290800-47297800	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:47291000-47296200	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:47291400-47296600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:47291600-47296200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:47291600-47300800	Weak transcription	Brain Germinal Matrix	brain
35	chr2:47291800-47293800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:47291800-47293800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:47291800-47296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:47291800-47297800	Genic enhancers	Spleen	Spleen
39	chr2:47291800-47301200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:47292000-47294000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:47292000-47294200	Enhancers	NHLF	lung
42	chr2:47292000-47294600	Weak transcription	Esophagus	oesophagus
43	chr2:47292000-47295000	Weak transcription	Psoas Muscle	Psoas
44	chr2:47292000-47296600	Weak transcription	GM12878-XiMat	blood
45	chr2:47292000-47298800	Enhancers	Placenta	Placenta
46	chr2:47292200-47294000	Enhancers	Osteobl	bone
47	chr2:47292200-47296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:47292200-47298200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:47292400-47293800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:47292400-47293800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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