Variant report

Variant	rs34950525
Chromosome Location	chr7:6430047-6430048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6412666..6416399-chr7:6429961..6432840,4	MCF-7	breast:
2	chr7:6424186..6426386-chr7:6428771..6430313,2	K562	blood:
3	chr7:6423125..6425686-chr7:6428295..6430313,2	K562	blood:

Variant related genes	Relation type
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34301604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34654898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35702073	1.00[AMR][1000 genomes]
rs62441276	1.00[AFR][1000 genomes]
rs73059357	1.00[AFR][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	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
2	chr7:6423000-6432400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6424000-6432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6424000-6432400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:6424600-6431400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:6425400-6432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:6425600-6432200	Weak transcription	Fetal Heart	heart
8	chr7:6425800-6432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:6426000-6432400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:6426000-6432400	Weak transcription	Ovary	ovary
11	chr7:6426000-6432400	Weak transcription	Right Atrium	heart
12	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:6426200-6431800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:6426400-6431200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:6426400-6432400	Weak transcription	Psoas Muscle	Psoas
17	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:6426600-6431800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:6426600-6432000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr7:6426600-6432400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:6426600-6432600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:6426600-6434200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:6426600-6434400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:6426600-6436200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:6426800-6431400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:6426800-6432400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:6426800-6432400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:6426800-6432400	Strong transcription	GM12878-XiMat	blood
29	chr7:6426800-6432400	Strong transcription	HSMM	muscle
30	chr7:6426800-6432600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:6426800-6434600	Strong transcription	HepG2	liver
32	chr7:6426800-6436200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:6426800-6436400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:6426800-6436600	Strong transcription	Dnd41	blood
35	chr7:6427000-6430200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr7:6427000-6430600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr7:6427000-6430600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:6427000-6431600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:6427000-6431800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:6427000-6432000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:6427000-6432200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:6427000-6432400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:6427000-6432400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:6427000-6432400	Strong transcription	Fetal Muscle Leg	muscle
45	chr7:6427000-6433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:6427000-6433000	Strong transcription	Fetal Thymus	thymus
47	chr7:6427000-6436400	Strong transcription	Fetal Stomach	stomach
48	chr7:6427200-6430400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:6427200-6432400	Strong transcription	Osteobl	bone
50	chr7:6427200-6433600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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