Variant report

Variant	rs7657598
Chromosome Location	chr4:77063541-77063542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77047745..77051558-chr4:77062903..77066801,7	K562	blood:
2	chr4:77062870..77064723-chr4:77131850..77133606,2	K562	blood:
3	chr4:77058580..77061268-chr4:77061902..77064829,3	MCF-7	breast:
4	chr4:77061702..77065283-chr4:77067091..77070259,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11723400	0.82[CEU][hapmap]
rs11734758	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11736522	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946345	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13108645	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13110133	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13126384	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13127201	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13135639	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13139234	0.85[YRI][hapmap]
rs4241588	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4241589	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4241590	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4288034	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4337755	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4498155	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4538520	0.82[CEU][hapmap]
rs4544733	0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552490	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4859616	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4859620	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61750814	0.88[AFR][1000 genomes]
rs6532203	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6532204	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6532208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6829581	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs735697	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7654988	0.85[YRI][hapmap]
rs7657823	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7675253	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9994218	1.00[CHB][hapmap];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv470047	chr4:77033590-77096777	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1008318	chr4:77042356-77095658	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv537144	chr4:77042356-77095658	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1000539	chr4:77042356-77105492	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr4:77028000-77068600	Weak transcription	Gastric	stomach
2	chr4:77032600-77067600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:77033200-77066000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:77033200-77068400	Weak transcription	Small Intestine	intestine
5	chr4:77033400-77065600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:77033400-77066000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:77033400-77066600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:77033600-77065600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr4:77033800-77066200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:77034000-77066000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:77034400-77067200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:77035000-77068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:77035200-77068600	Weak transcription	Pancreas	Pancrea
14	chr4:77035400-77066000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:77035600-77068400	Weak transcription	Right Ventricle	heart
16	chr4:77039000-77068200	Weak transcription	Psoas Muscle	Psoas
17	chr4:77039000-77068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:77044200-77068200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:77045000-77068600	Weak transcription	Spleen	Spleen
20	chr4:77047200-77065600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr4:77048600-77065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:77048800-77065600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:77049200-77064800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:77049200-77065600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:77050200-77068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:77051400-77064400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:77051400-77065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:77051400-77066000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:77051400-77068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:77053400-77065600	Strong transcription	Fetal Thymus	thymus
31	chr4:77053600-77065200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:77053600-77065400	Strong transcription	Fetal Intestine Large	intestine
33	chr4:77053600-77065600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:77053800-77066200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:77055000-77065400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:77055200-77065200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:77055400-77064400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:77055400-77065600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:77055600-77067200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:77056200-77065400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:77056200-77065800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:77056400-77064200	Strong transcription	Fetal Lung	lung
43	chr4:77056400-77065200	Strong transcription	Placenta	Placenta
44	chr4:77056400-77065400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:77056400-77065600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:77056400-77065600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:77056600-77065200	Strong transcription	Fetal Brain Female	brain
48	chr4:77056600-77065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:77056600-77065400	Strong transcription	Brain Anterior Caudate	brain
50	chr4:77056600-77065600	Strong transcription	H1 Cell Line	embryonic stem cell

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