Variant report

Variant	rs1029604
Chromosome Location	chr7:27791956-27791957
allele	C/T
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	chr7:27785977..27788365-chr7:27790944..27793123,2	K562	blood:
2	chr20:55798445..55799159-chr7:27791507..27792124,2	MCF-7	breast:
3	chr7:27777857..27780567-chr7:27790720..27792722,2	MCF-7	breast:
4	chr7:27779032..27781221-chr7:27791836..27793708,2	K562	blood:
5	chr7:27779754..27782008-chr7:27790411..27792319,2	MCF-7	breast:
6	chr7:27786993..27792954-chr7:27793164..27797918,6	K562	blood:
7	chr7:27783427..27786063-chr7:27789814..27792025,2	MCF-7	breast:
8	chr7:27785607..27787988-chr7:27790744..27792457,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106052	Chromatin interaction
ENSG00000229893	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10249314	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540483	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11761718	0.80[CEU][hapmap]
rs11761773	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11762056	0.80[CEU][hapmap]
rs11764419	0.80[CEU][hapmap]
rs11764624	0.80[CEU][hapmap]
rs1468443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680908	1.00[AFR][1000 genomes]
rs17683094	0.80[CEU][hapmap]
rs2158892	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs42090	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs42093	0.80[CEU][hapmap]
rs42097	0.80[CEU][hapmap]
rs42114	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4719905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722731	0.97[EUR][1000 genomes]
rs4722736	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722738	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070801	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60426718	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62454911	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62454912	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62454913	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62456949	1.00[AFR][1000 genomes]
rs6462044	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6946582	1.00[AFR][1000 genomes]
rs6960451	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969516	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970160	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073377	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073379	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073380	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073387	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073388	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073393	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075112	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73075307	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075310	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075311	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075322	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075325	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075329	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075331	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075354	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075359	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075361	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075375	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075378	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73078776	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73078778	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73083352	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73083361	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73083363	0.85[AMR][1000 genomes]
rs73083364	0.85[AMR][1000 genomes]
rs73083371	0.85[AMR][1000 genomes]
rs73083377	0.85[AMR][1000 genomes]
rs73083378	0.85[AMR][1000 genomes]
rs7790914	1.00[CEU][hapmap]
rs7795207	1.00[AFR][1000 genomes]
rs7807729	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:27780800-27815200	Weak transcription	Gastric	stomach
5	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
7	chr7:27781200-27792000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:27781400-27799600	Weak transcription	Fetal Stomach	stomach
9	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
11	chr7:27784800-27799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:27784800-27801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:27785000-27793200	Weak transcription	Fetal Heart	heart
16	chr7:27785000-27805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:27785000-27806200	Weak transcription	Spleen	Spleen
18	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:27785200-27809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:27787000-27804200	Weak transcription	Fetal Intestine Small	intestine
21	chr7:27787400-27799200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:27787600-27793600	Weak transcription	Stomach Mucosa	stomach
23	chr7:27787600-27805600	Weak transcription	Pancreas	Pancrea
24	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:27787800-27793400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:27787800-27793800	Strong transcription	Primary B cells from cord blood	blood
27	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
28	chr7:27788000-27792600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:27788000-27792600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:27788000-27792800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:27788000-27792800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:27788200-27792000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:27788200-27792200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:27788200-27792200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:27788200-27792200	Strong transcription	Adipose Nuclei	Adipose
36	chr7:27788200-27792200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr7:27788200-27792200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:27788200-27792400	Strong transcription	HepG2	liver
39	chr7:27788200-27792600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:27788200-27792600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:27788200-27792800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:27788200-27793000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:27788200-27793200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:27788200-27793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:27788200-27793800	Strong transcription	Placenta	Placenta
46	chr7:27788200-27794000	Strong transcription	Osteobl	bone
47	chr7:27788200-27795400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:27788200-27798800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:27788200-27799400	Strong transcription	Dnd41	blood
50	chr7:27788200-27800400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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