Variant report

Variant	rs34947973
Chromosome Location	chr4:8411510-8411511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8411216..8414170-chr4:8427431..8430219,2	MCF-7	breast:
2	chr4:8411333..8413116-chr4:8429011..8431079,2	MCF-7	breast:
3	chr4:8405868..8408180-chr4:8410385..8411900,2	K562	blood:
4	chr4:8404879..8407755-chr4:8409696..8411552,2	MCF-7	breast:
5	chr4:8184952..8186912-chr4:8408862..8412072,3	MCF-7	breast:
6	chr4:8404571..8406655-chr4:8410577..8413639,3	MCF-7	breast:
7	chr4:8410214..8413644-chr4:8429714..8431536,3	K562	blood:

Variant related genes	Relation type
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10012186	0.85[AFR][1000 genomes]
rs10016221	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10017177	0.97[ASN][1000 genomes]
rs1006113	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10938710	0.82[ASN][1000 genomes]
rs10938712	0.94[ASN][1000 genomes]
rs11721377	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11724408	0.94[ASN][1000 genomes]
rs11731308	0.93[ASN][1000 genomes]
rs11931965	0.92[ASN][1000 genomes]
rs11934603	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11934642	0.83[AFR][1000 genomes]
rs11938364	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13103946	0.94[ASN][1000 genomes]
rs13107329	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13130336	0.94[ASN][1000 genomes]
rs13134272	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13136987	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13139522	0.95[ASN][1000 genomes]
rs13150818	0.93[ASN][1000 genomes]
rs1568692	0.93[ASN][1000 genomes]
rs1568693	0.93[ASN][1000 genomes]
rs2242483	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293229	0.96[ASN][1000 genomes]
rs28637781	0.92[ASN][1000 genomes]
rs28805000	0.94[ASN][1000 genomes]
rs35893558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796740	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4543095	0.97[ASN][1000 genomes]
rs6447868	0.94[ASN][1000 genomes]
rs73087705	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7668735	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696306	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9291391	0.92[ASN][1000 genomes]
rs9291392	0.92[ASN][1000 genomes]
rs950306	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
4	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:8387400-8412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:8395800-8411800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:8396600-8419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:8396800-8412400	Weak transcription	Fetal Brain Male	brain
9	chr4:8396800-8415600	Weak transcription	NH-A	brain
10	chr4:8397600-8420400	Weak transcription	NHDF-Ad	bronchial
11	chr4:8399200-8412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:8399400-8411800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:8399400-8412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:8399600-8412000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:8403200-8419400	Strong transcription	Fetal Intestine Small	intestine
17	chr4:8403400-8414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:8403600-8412200	Strong transcription	Brain Germinal Matrix	brain
19	chr4:8404600-8411800	Weak transcription	NHEK	skin
20	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:8404800-8420600	Weak transcription	Psoas Muscle	Psoas
22	chr4:8405000-8412200	Weak transcription	HUVEC	blood vessel
23	chr4:8405000-8415600	Weak transcription	Fetal Kidney	kidney
24	chr4:8405200-8411800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:8405200-8412200	Strong transcription	Spleen	Spleen
26	chr4:8405400-8411800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:8405400-8412000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr4:8405400-8414400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:8405400-8418400	Strong transcription	Brain Hippocampus Middle	brain
30	chr4:8405600-8411600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:8405600-8412600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:8405600-8418600	Strong transcription	Liver	Liver
33	chr4:8405600-8418800	Strong transcription	Aorta	Aorta
34	chr4:8406200-8412000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:8406600-8418800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:8407000-8412200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:8407200-8412000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:8407200-8412200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:8407400-8412200	Strong transcription	Fetal Lung	lung
40	chr4:8407600-8415600	Weak transcription	GM12878-XiMat	blood
41	chr4:8407800-8411800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:8407800-8411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:8407800-8411800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:8407800-8412000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:8407800-8415400	Weak transcription	Left Ventricle	heart
46	chr4:8407800-8415600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:8407800-8419200	Weak transcription	Fetal Thymus	thymus
48	chr4:8408000-8414000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:8408000-8415600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:8408200-8411600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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