Variant report

Variant	rs12706108
Chromosome Location	chr7:116512269-116512270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr7:116512190..116515433-chr7:116515804..116519859,4	MCF-7	breast:
5	chr6:135703054..135703949-chr7:116512149..116512874,2	MCF-7	breast:
6	chr7:116501461..116505049-chr7:116509139..116512993,7	K562	blood:

Variant related genes	Relation type
ENSG00000235945	Chromatin interaction
ENSG00000198898	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10487354	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10487355	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10487356	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953829	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953830	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12533164	1.00[CEU][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533755	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537847	0.86[YRI][hapmap]
rs12665952	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12669383	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12670056	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12670264	1.00[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12671827	0.94[EUR][1000 genomes]
rs12671828	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12672008	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12673979	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12674017	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706109	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706110	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706112	0.98[EUR][1000 genomes]
rs12706115	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706120	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706121	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12706122	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12706123	0.83[EUR][1000 genomes]
rs13222845	0.94[EUR][1000 genomes]
rs13224082	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13228847	0.96[EUR][1000 genomes]
rs13239000	1.00[CEU][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237718	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs2237720	1.00[CEU][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299441	0.97[EUR][1000 genomes]
rs2301649	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3173936	1.00[CEU][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807999	0.88[CEU][hapmap];0.99[EUR][1000 genomes]
rs4808	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7808129	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9791492	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9791721	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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:118 , 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	chr7:116504000-116512800	Weak transcription	Placenta	Placenta
3	chr7:116504000-116514000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:116504000-116514800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:116504000-116515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:116504200-116516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:116504200-116516800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:116504200-116516800	Weak transcription	Esophagus	oesophagus
9	chr7:116504400-116514000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:116504400-116514200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:116504400-116514600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:116504400-116515200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr7:116504400-116528800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:116504400-116533000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:116504600-116513600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:116504600-116514000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr7:116504600-116540800	Weak transcription	Fetal Kidney	kidney
18	chr7:116505000-116512400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:116505000-116514200	Weak transcription	Thymus	Thymus
20	chr7:116505000-116514400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:116505000-116516400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:116505000-116517000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:116505000-116525200	Weak transcription	NHDF-Ad	bronchial
24	chr7:116505000-116533600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:116505000-116537400	Weak transcription	Brain Germinal Matrix	brain
26	chr7:116505200-116513200	Weak transcription	HMEC	breast
27	chr7:116505200-116513600	Weak transcription	HSMM	muscle
28	chr7:116505200-116513800	Weak transcription	HSMMtube	muscle
29	chr7:116505200-116516400	Weak transcription	Fetal Lung	lung
30	chr7:116505800-116513000	Weak transcription	Fetal Thymus	thymus
31	chr7:116505800-116513200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:116506000-116513600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:116506000-116529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:116506200-116514200	Weak transcription	A549	lung
36	chr7:116507000-116516800	Weak transcription	Hela-S3	cervix
37	chr7:116507400-116512800	Weak transcription	Primary B cells from cord blood	blood
38	chr7:116507600-116528000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:116508600-116513600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:116508600-116514800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:116509000-116514600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:116509000-116514600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:116509200-116515200	Enhancers	Primary T cells from cord blood	blood
44	chr7:116509400-116513600	Enhancers	Fetal Heart	heart
45	chr7:116509400-116514400	Enhancers	Colon Smooth Muscle	Colon
46	chr7:116509400-116514800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:116509600-116513000	Enhancers	HepG2	liver
48	chr7:116509600-116514800	Enhancers	Adipose Nuclei	Adipose
49	chr7:116509600-116515200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr7:116509600-116516600	Weak transcription	Fetal Brain Female	brain

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