Variant report

Variant	rs7559194
Chromosome Location	chr2:234206799-234206800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234196980..234199300-chr2:234206108..234208506,2	MCF-7	breast:
2	chr2:234198572..234200432-chr2:234205905..234208256,2	MCF-7	breast:
3	chr2:234206531..234209535-chr2:234260932..234264181,3	MCF-7	breast:
4	chr2:234205572..234208233-chr2:234208734..234211089,2	K562	blood:
5	chr2:234206031..234207757-chr2:234262903..234264733,2	MCF-7	breast:
6	chr2:234200856..234204903-chr2:234205910..234207803,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259793	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000243637	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10164737	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10165561	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10167613	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10178603	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10186850	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10187752	0.88[ASN][1000 genomes]
rs10187822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10192702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10196794	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199278	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10203952	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10206299	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10210302	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1045100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929322	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10929325	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929326	0.81[EUR][1000 genomes]
rs11679791	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11680089	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11680130	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11687982	0.85[ASN][1000 genomes]
rs11688431	0.88[ASN][1000 genomes]
rs11690131	0.87[ASN][1000 genomes]
rs11694081	0.86[ASN][1000 genomes]
rs11893210	0.81[ASN][1000 genomes]
rs12162308	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12692254	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12994971	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12994997	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13003866	0.91[ASN][1000 genomes]
rs13009506	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13015823	0.83[JPT][hapmap]
rs13035837	0.83[JPT][hapmap]
rs13391356	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13411660	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418066	0.91[ASN][1000 genomes]
rs1441092	0.83[JPT][hapmap]
rs1596017	0.89[ASN][1000 genomes]
rs2119505	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241878	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241879	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241880	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289472	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289474	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289477	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs28454240	0.91[ASN][1000 genomes]
rs2880080	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34123137	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34701569	0.90[ASN][1000 genomes]
rs35300242	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36001488	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792106	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs3792108	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792109	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792111	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792112	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816234	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3828309	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55835501	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56049444	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56227616	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6431654	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6431660	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6431661	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705964	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708373	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738490	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6745825	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752107	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:234197600-234206800	Strong transcription	A549	lung
4	chr2:234198400-234206800	Strong transcription	HSMMtube	muscle
5	chr2:234199200-234210200	Weak transcription	Stomach Mucosa	stomach
6	chr2:234201600-234207200	Weak transcription	K562	blood
7	chr2:234202200-234207400	Weak transcription	Psoas Muscle	Psoas
8	chr2:234203200-234207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:234203200-234209000	Weak transcription	Fetal Brain Male	brain
10	chr2:234203400-234209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:234203400-234216000	Weak transcription	Hela-S3	cervix
12	chr2:234204000-234207400	Weak transcription	HUVEC	blood vessel
13	chr2:234204000-234211000	Weak transcription	Fetal Lung	lung
14	chr2:234204600-234207600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:234204800-234207200	Weak transcription	Small Intestine	intestine
16	chr2:234204800-234207800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:234204800-234208800	Weak transcription	Placenta	Placenta
18	chr2:234204800-234209400	Weak transcription	NHLF	lung
19	chr2:234204800-234210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:234205000-234206800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:234205000-234206800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:234205000-234207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:234205000-234207200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:234205000-234207200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:234205000-234207200	Weak transcription	NHEK	skin
26	chr2:234205000-234207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:234205000-234207800	Weak transcription	Primary B cells from cord blood	blood
28	chr2:234205000-234209000	Weak transcription	GM12878-XiMat	blood
29	chr2:234205000-234216200	Weak transcription	Left Ventricle	heart
30	chr2:234205200-234206800	Weak transcription	Brain Angular Gyrus	brain
31	chr2:234205200-234206800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:234205200-234206800	Weak transcription	Brain Germinal Matrix	brain
33	chr2:234205200-234206800	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:234205200-234206800	Weak transcription	Brain Substantia Nigra	brain
35	chr2:234205200-234206800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:234205200-234206800	Weak transcription	Right Ventricle	heart
37	chr2:234205200-234206800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:234205200-234207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:234205200-234207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:234205200-234207000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:234205200-234207000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:234205200-234207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:234205200-234207000	Weak transcription	HMEC	breast
44	chr2:234205200-234207000	Weak transcription	HSMM	muscle
45	chr2:234205200-234207200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:234205200-234207200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:234205200-234207200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:234205200-234207200	Weak transcription	Adipose Nuclei	Adipose
49	chr2:234205200-234207200	Weak transcription	Osteobl	bone
50	chr2:234205200-234207400	Weak transcription	H1 Cell Line	embryonic stem cell

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