Variant report

Variant	rs7536930
Chromosome Location	chr1:173705467-173705468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10082296	0.83[AFR][1000 genomes]
rs10128064	0.83[AFR][1000 genomes]
rs10158274	0.88[AFR][1000 genomes]
rs10159349	0.96[AFR][1000 genomes]
rs12239406	0.91[AFR][1000 genomes]
rs13375569	0.83[AFR][1000 genomes]
rs13376339	0.96[AFR][1000 genomes]
rs2227605	0.83[AFR][1000 genomes]
rs4652416	0.83[AFR][1000 genomes]
rs6425252	0.91[AFR][1000 genomes]
rs6665497	0.83[AFR][1000 genomes]
rs7349122	0.83[AFR][1000 genomes]
rs7349166	0.83[AFR][1000 genomes]
rs7525411	0.87[AFR][1000 genomes]
rs9425412	0.83[AFR][1000 genomes]
rs9425437	0.83[AFR][1000 genomes]
rs9425732	0.83[AFR][1000 genomes]
rs9425733	0.83[AFR][1000 genomes]
rs9425769	0.83[AFR][1000 genomes]
rs9425770	0.83[AFR][1000 genomes]
rs9425771	0.83[AFR][1000 genomes]
rs9425777	0.83[AFR][1000 genomes]
rs9425778	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	nsv946509	chr1:173703318-173711106	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 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	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
2	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
6	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
8	chr1:173687600-173706600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:173687800-173707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:173691200-173710000	Weak transcription	Hela-S3	cervix
11	chr1:173694600-173706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:173694600-173708000	Weak transcription	Fetal Heart	heart
13	chr1:173694600-173724800	Weak transcription	HMEC	breast
14	chr1:173694800-173718400	Weak transcription	NHDF-Ad	bronchial
15	chr1:173695000-173718000	Weak transcription	A549	lung
16	chr1:173695400-173721600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:173695600-173721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:173695800-173710000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:173695800-173725000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:173695800-173726000	Weak transcription	Esophagus	oesophagus
22	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:173696200-173726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:173696600-173721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:173696600-173723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:173698000-173724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:173699600-173725800	Weak transcription	Fetal Kidney	kidney
28	chr1:173702200-173705600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:173702400-173705800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:173702400-173705800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:173702400-173706800	Strong transcription	Primary T cells from cord blood	blood
32	chr1:173702600-173705600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:173702600-173705800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr1:173702600-173706200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:173702600-173706200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:173702800-173705600	Strong transcription	Primary B cells from cord blood	blood
37	chr1:173702800-173705600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:173702800-173705600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:173702800-173705600	Strong transcription	Dnd41	blood
40	chr1:173702800-173705600	Strong transcription	HSMM	muscle
41	chr1:173702800-173705800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:173702800-173705800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:173702800-173705800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:173702800-173705800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:173702800-173705800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:173702800-173705800	Strong transcription	Fetal Intestine Large	intestine
47	chr1:173702800-173705800	Strong transcription	Fetal Thymus	thymus
48	chr1:173702800-173705800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:173702800-173706000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:173702800-173706200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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