Variant report

Variant	rs2237718
Chromosome Location	chr7:116513236-116513237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116511871..116514015-chr7:116539676..116541938,2	K562	blood:
2	chr7:116510648..116515010-chr7:116515290..116517659,4	K562	blood:
3	chr7:116501242..116506265-chr7:116510058..116522773,18	MCF-7	breast:
4	7:116500954-116503335..7:116513073-116513981	Hela-S3	cervix:
5	chr7:116512190..116515433-chr7:116515804..116519859,4	MCF-7	breast:
6	chr7:116501434..116502951-chr7:116512969..116515180,2	K562	blood:
7	chr7:116512871..116514747-chr7:116571202..116574022,2	K562	blood:
8	7:115861595-115870968..7:116513073-116513981	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000235945	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10487354	0.85[LWK][hapmap];0.91[YRI][hapmap]
rs12533164	0.90[YRI][hapmap]
rs12537847	0.91[MKK][hapmap];1.00[YRI][hapmap]
rs12670056	0.85[LWK][hapmap];0.91[YRI][hapmap]
rs12670264	0.91[YRI][hapmap]
rs12672008	0.84[LWK][hapmap];0.91[YRI][hapmap]
rs12706108	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs13239000	0.91[YRI][hapmap]
rs16870030	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17139063	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs17139068	0.90[CHB][hapmap]
rs2097690	1.00[EUR][1000 genomes]
rs2237720	0.91[YRI][hapmap]
rs2301649	0.85[LWK][hapmap];0.91[YRI][hapmap]
rs3173936	0.91[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116504000-116514000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:116504000-116514800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:116504000-116515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:116504200-116516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:116504200-116516800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:116504200-116516800	Weak transcription	Esophagus	oesophagus
8	chr7:116504400-116514000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:116504400-116514200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:116504400-116514600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:116504400-116515200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:116504600-116513600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:116504600-116514000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
17	chr7:116505000-116514200	Weak transcription	Thymus	Thymus
18	chr7:116505000-116514400	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:116505000-116516400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:116505000-116517000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:116505000-116525200	Weak transcription	NHDF-Ad	bronchial
22	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:116505200-116513600	Weak transcription	HSMM	muscle
25	chr7:116505200-116513800	Weak transcription	HSMMtube	muscle
26	chr7:116505200-116516400	Weak transcription	Fetal Lung	lung
27	chr7:116506000-116513600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:116506000-116529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:116506200-116514200	Weak transcription	A549	lung
31	chr7:116507000-116516800	Weak transcription	Hela-S3	cervix
32	chr7:116507600-116528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:116508600-116513600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:116508600-116514800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:116509000-116514600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:116509000-116514600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:116509200-116515200	Enhancers	Primary T cells from cord blood	blood
38	chr7:116509400-116513600	Enhancers	Fetal Heart	heart
39	chr7:116509400-116514400	Enhancers	Colon Smooth Muscle	Colon
40	chr7:116509400-116514800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:116509600-116514800	Enhancers	Adipose Nuclei	Adipose
42	chr7:116509600-116515200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:116509600-116516600	Weak transcription	Fetal Brain Female	brain
44	chr7:116509800-116515200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr7:116510000-116516400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:116510400-116513600	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:116510400-116516600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:116510600-116514200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:116510600-116516200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:116510800-116513800	Weak transcription	Left Ventricle	heart

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