Variant report

Variant	rs17647806
Chromosome Location	chr2:182780874-182780875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr2:182780570-182781128	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:182779336-182781794	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:182779399-182781454	HCT-116	colon:	n/a	n/a
4	POLR2A	chr2:182778854-182784341	HCT-116	colon:	n/a	n/a
5	POLR2A	chr2:182780635-182784508	K562	blood:	n/a	n/a
6	POLR2A	chr2:182780349-182781216	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:182780079-182781820	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:182780518-182781275	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr2:182779182-182784349	MCF-7	breast:	n/a	n/a
10	POLR2A	chr2:182779857-182781316	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182774475..182776791-chr2:182778297..182781131,4	MCF-7	breast:
2	chr2:182773274..182776283-chr2:182780172..182782766,3	K562	blood:
3	chr2:182780744..182783740-chr2:182783863..182787086,4	K562	blood:

No data

Variant related genes	Relation type
SSFA2	TF binding region
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10497590	1.00[LWK][hapmap]
rs11695458	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3754930	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182757800-182790400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:182758000-182783200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:182759200-182783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:182759600-182782000	Strong transcription	HSMM	muscle
5	chr2:182759800-182789400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:182760000-182794800	Strong transcription	Fetal Thymus	thymus
7	chr2:182760800-182787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:182761400-182795800	Strong transcription	Placenta	Placenta
9	chr2:182764600-182786600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:182767200-182783200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:182768200-182787800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:182769400-182795600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:182769600-182795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:182769600-182795800	Strong transcription	Dnd41	blood
15	chr2:182772400-182790800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:182774000-182781400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:182774000-182790800	Strong transcription	HMEC	breast
18	chr2:182774200-182781000	Strong transcription	NHDF-Ad	bronchial
19	chr2:182774600-182787400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:182774600-182788400	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:182774600-182795200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:182775000-182788800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:182775800-182792200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr2:182775800-182792600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:182775800-182795800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:182775800-182795800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:182776000-182795800	Strong transcription	Hela-S3	cervix
28	chr2:182776200-182793200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:182776400-182785400	Strong transcription	A549	lung
30	chr2:182776400-182787600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:182776800-182791600	Strong transcription	Fetal Intestine Large	intestine
32	chr2:182777200-182788400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:182778000-182781400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:182778200-182784200	Genic enhancers	Liver	Liver
35	chr2:182778200-182788000	Strong transcription	K562	blood
36	chr2:182778200-182788200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:182778400-182781000	Strong transcription	Adipose Nuclei	Adipose
38	chr2:182778400-182781400	Strong transcription	Fetal Brain Male	brain
39	chr2:182778400-182781600	Strong transcription	Brain Hippocampus Middle	brain
40	chr2:182778600-182782400	Strong transcription	HepG2	liver
41	chr2:182778800-182781000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:182778800-182781400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:182778800-182782400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:182778800-182788000	Strong transcription	Fetal Lung	lung
45	chr2:182778800-182792800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:182778800-182792800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:182779000-182781000	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr2:182779000-182781400	Strong transcription	Brain Substantia Nigra	brain
49	chr2:182779000-182781400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr2:182779000-182781600	Strong transcription	Brain Angular Gyrus	brain

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