Variant report

Variant	rs696618
Chromosome Location	chr1:150376139-150376140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150375251..150377175-chr1:150385141..150386807,2	K562	blood:
2	chr1:150336621..150339237-chr1:150375954..150379046,3	MCF-7	breast:
3	chr1:150263938..150266633-chr1:150375776..150377905,2	MCF-7	breast:
4	chr1:150371333..150375683-chr1:150376002..150380348,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction
ENSG00000187145	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11205357	0.87[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs11205373	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11205385	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs11577600	1.00[CEU][hapmap]
rs11577843	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs11581351	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs11582423	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap]
rs11587575	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs12029359	0.81[CHB][hapmap]
rs12040949	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs12046899	0.81[CHB][hapmap]
rs1260367	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1260407	0.94[JPT][hapmap]
rs1260411	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs1260459	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap]
rs13294	0.88[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs1498308	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs1625468	0.88[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs1694364	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs1694377	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs1694380	0.94[JPT][hapmap]
rs17596326	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs1776273	0.94[JPT][hapmap]
rs1932934	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2147324	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2274127	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs2794679	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap]
rs2794681	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2873669	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs3737240	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs3738487	0.88[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs4446975	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs4451552	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs4581308	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs471738	0.94[JPT][hapmap]
rs486275	0.90[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs488271	0.94[JPT][hapmap]
rs4926395	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs509345	0.94[JPT][hapmap]
rs543179	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs578353	0.94[JPT][hapmap]
rs6662108	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs6703652	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs696616	0.92[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs698913	0.94[JPT][hapmap]
rs698916	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs7002	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs7512552	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7513205	0.88[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs7517441	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs7523428	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap]
rs7548085	0.92[JPT][hapmap]
rs7554686	0.89[JPT][hapmap]
rs8006	0.94[JPT][hapmap]
rs832622	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs834231	0.92[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs834232	0.91[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs834234	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs834242	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs9436112	0.88[CEU][hapmap];0.88[JPT][hapmap]
rs9436127	0.88[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150338400-150405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:150339400-150390600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:150339800-150390000	Weak transcription	Thymus	Thymus
4	chr1:150340000-150416800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:150343400-150378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:150343800-150378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:150347000-150392400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:150347200-150380000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:150348000-150390400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:150355600-150382000	Weak transcription	Lung	lung
11	chr1:150356400-150381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:150359200-150392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:150359600-150381200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:150360000-150377600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:150360000-150378800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:150360000-150385000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:150360000-150385200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:150360000-150389600	Weak transcription	Dnd41	blood
19	chr1:150360000-150390800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:150360800-150377400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:150360800-150387800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:150361800-150378800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:150362200-150377400	Weak transcription	Brain Angular Gyrus	brain
24	chr1:150362200-150378200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:150362200-150378600	Weak transcription	Psoas Muscle	Psoas
26	chr1:150362200-150382400	Weak transcription	Fetal Kidney	kidney
27	chr1:150362400-150380800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:150362400-150381000	Weak transcription	Primary B cells from cord blood	blood
29	chr1:150362400-150382400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:150362400-150389600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:150362600-150376200	Weak transcription	Pancreas	Pancrea
32	chr1:150362600-150377400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:150362600-150377800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:150362600-150378000	Weak transcription	Fetal Intestine Large	intestine
35	chr1:150362600-150378200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:150362600-150378200	Weak transcription	Small Intestine	intestine
37	chr1:150362600-150416600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:150363000-150383400	Weak transcription	Right Atrium	heart
39	chr1:150363400-150377400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:150365000-150379200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:150365400-150376600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:150365800-150376800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:150366400-150377400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:150369000-150378200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:150370000-150407800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:150371800-150378200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:150372200-150393200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:150373000-150382200	Weak transcription	Gastric	stomach
49	chr1:150373000-150382200	Weak transcription	Right Ventricle	heart
50	chr1:150373000-150382400	Weak transcription	Primary B cells from peripheral blood	blood

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