Variant report

Variant	rs7349122
Chromosome Location	chr1:173744598-173744599
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173743782..173745551-chr1:173748719..173750353,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10082296	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128064	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158274	1.00[AMR][1000 genomes]
rs10159349	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239406	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13313018	1.00[AMR][1000 genomes]
rs13353023	1.00[YRI][hapmap]
rs13374735	1.00[AMR][1000 genomes]
rs13375569	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376339	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227605	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227621	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4650988	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4652416	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425252	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656810	1.00[AMR][1000 genomes]
rs6665497	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7349166	0.83[AFR][1000 genomes]
rs7525411	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7536930	0.83[AFR][1000 genomes]
rs9286893	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425437	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425733	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425737	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425739	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425744	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9425767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425769	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425770	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425771	0.83[AFR][1000 genomes]
rs9425777	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9425778	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
3	chr1:173727600-173744600	Weak transcription	HSMM	muscle
4	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
5	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
6	chr1:173728800-173744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:173728800-173744600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:173728800-173744600	Weak transcription	Osteobl	bone
9	chr1:173728800-173748600	Weak transcription	Hela-S3	cervix
10	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
11	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:173729000-173744600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:173729000-173749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
18	chr1:173729600-173752200	Weak transcription	A549	lung
19	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:173731000-173749000	Weak transcription	GM12878-XiMat	blood
21	chr1:173732800-173744800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
23	chr1:173736000-173751200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:173736600-173751200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:173736800-173760600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:173737200-173750400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:173739400-173751400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:173741400-173757400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:173741800-173745600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:173741800-173746200	Strong transcription	Primary B cells from cord blood	blood
32	chr1:173741800-173759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:173741800-173762400	Weak transcription	Stomach Mucosa	stomach
34	chr1:173742200-173745000	Strong transcription	Fetal Intestine Small	intestine
35	chr1:173742200-173745200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:173742200-173747200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:173742800-173745800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:173742800-173754400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:173742800-173759800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:173743000-173745000	Strong transcription	Fetal Stomach	stomach
41	chr1:173743000-173745600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:173743000-173747800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:173743000-173749800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:173743200-173744600	Strong transcription	K562	blood
45	chr1:173743200-173744800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:173743200-173744800	Strong transcription	Liver	Liver
47	chr1:173743200-173745200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:173743200-173745400	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr1:173743200-173745800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:173743200-173746000	Strong transcription	Fetal Intestine Large	intestine

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