Variant report

Variant	rs4077630
Chromosome Location	chr1:161360452-161360453
allele	C/G
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161359623..161362089-chr1:161395058..161398010,2	K562	blood:
2	chr1:161360107..161360850-chr1:161369482..161370266,2	MCF-7	breast:
3	chr1:161359596..161364953-chr1:161367894..161371258,10	MCF-7	breast:
4	chr1:161129987..161131759-chr1:161359681..161362031,2	MCF-7	breast:
5	chr1:161358508..161360458-chr1:161366457..161368829,2	MCF-7	breast:
6	chr1:161123324..161125351-chr1:161358305..161361204,4	K562	blood:
7	chr1:161171621..161173767-chr1:161358321..161361966,4	K562	blood:
8	chr1:161194176..161197310-chr1:161359210..161361153,3	K562	blood:
9	chr1:161283233..161286394-chr1:161358272..161361598,5	K562	blood:
10	chr1:161360146..161362963-chr1:161370800..161372677,2	MCF-7	breast:
11	chr1:161194802..161197493-chr1:161358344..161361187,2	MCF-7	breast:
12	chr1:161356052..161365834-chr1:161365949..161371376,30	K562	blood:
13	chr1:161351090..161356215-chr1:161358922..161361757,5	MCF-7	breast:
14	chr1:161335442..161337167-chr1:161358707..161360839,2	K562	blood:
15	chr1:161163886..161166683-chr1:161359884..161361575,2	K562	blood:
16	chr1:161170753..161176736-chr1:161358018..161361909,11	K562	blood:
17	chr1:161358757..161361618-chr1:161398787..161400616,2	K562	blood:
18	chr1:161357437..161366069-chr1:161366187..161371309,27	K562	blood:
19	chr1:161171093..161173852-chr1:161357935..161360816,5	MCF-7	breast:
20	chr1:161337567..161339294-chr1:161358166..161360849,2	K562	blood:
21	chr1:161358247..161360860-chr1:161371655..161373907,3	K562	blood:
22	chr1:161135123..161137226-chr1:161359788..161361657,2	MCF-7	breast:
23	chr1:161356452..161358172-chr1:161358237..161361223,3	MCF-7	breast:
24	chr1:161147390..161148899-chr1:161358540..161360873,2	MCF-7	breast:
25	chr1:161334444..161337167-chr1:161357500..161360839,3	K562	blood:
26	chr1:161358408..161361301-chr1:161374054..161376270,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263548	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000188931	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000215840	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000206921	Chromatin interaction
ENSG00000143222	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10494352	0.81[JPT][hapmap]
rs11265586	0.81[ASN][1000 genomes]
rs12745115	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12745664	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34589411	0.84[ASN][1000 genomes]
rs3813630	0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4256831	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4282845	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4656297	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7515068	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7530775	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
13	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4077630	HSPA7	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161359000-161360600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:161359200-161360600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:161359200-161360600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:161359200-161360600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:161359200-161360600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:161359200-161360600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:161359200-161360600	Active TSS	Aorta	Aorta
8	chr1:161359200-161360600	Active TSS	Brain Substantia Nigra	brain
9	chr1:161359200-161360600	Active TSS	Colon Smooth Muscle	Colon
10	chr1:161359200-161360600	Active TSS	Fetal Brain Female	brain
11	chr1:161359200-161360600	Active TSS	Fetal Heart	heart
12	chr1:161359200-161360600	Active TSS	Fetal Kidney	kidney
13	chr1:161359200-161360800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:161359200-161360800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:161359200-161360800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:161359200-161360800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:161359200-161360800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:161359200-161360800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:161359200-161360800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:161359200-161360800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr1:161359200-161360800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:161359200-161360800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:161359200-161360800	Active TSS	Psoas Muscle	Psoas
24	chr1:161359200-161360800	Active TSS	Right Ventricle	heart
25	chr1:161359200-161360800	Active TSS	HSMM	muscle
26	chr1:161359200-161360800	Active TSS	HSMMtube	muscle
27	chr1:161359200-161361000	Active TSS	Brain Angular Gyrus	brain
28	chr1:161359200-161361000	Active TSS	Brain Anterior Caudate	brain
29	chr1:161359200-161361200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:161359200-161361200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:161359400-161360600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:161359400-161360600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:161359400-161360600	Active TSS	Esophagus	oesophagus
34	chr1:161359400-161360600	Active TSS	Fetal Brain Male	brain
35	chr1:161359400-161360600	Active TSS	Gastric	stomach
36	chr1:161359400-161360600	Active TSS	Left Ventricle	heart
37	chr1:161359400-161360600	Active TSS	Lung	lung
38	chr1:161359400-161360600	Active TSS	Ovary	ovary
39	chr1:161359400-161360600	Active TSS	Small Intestine	intestine
40	chr1:161359400-161360800	Active TSS	Brain Cingulate Gyrus	brain
41	chr1:161359400-161360800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr1:161359400-161360800	Active TSS	Right Atrium	heart
43	chr1:161359400-161361000	Active TSS	A549	lung
44	chr1:161359600-161360600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:161359600-161360600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:161359600-161360600	Active TSS	NHLF	lung
47	chr1:161359600-161360600	Active TSS	Osteobl	bone
48	chr1:161359600-161360800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:161360000-161360800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr1:161360000-161360800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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