Variant report

Variant	rs2410919
Chromosome Location	chr7:101489684-101489685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101487333..101490087-chr7:101511385..101514324,2	K562	blood:
2	chr7:101455526..101462599-chr7:101483700..101492237,14	K562	blood:
3	chr7:101488351..101490093-chr7:101494145..101496604,2	K562	blood:
4	chr7:101488631..101490666-chr7:101498295..101500153,2	K562	blood:
5	chr7:101456033..101460344-chr7:101486829..101492237,7	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2970459	0.85[ASN][1000 genomes]
rs4236557	0.86[ASN][1000 genomes]
rs62463719	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101463800-101489800	Weak transcription	NHEK	skin
2	chr7:101466800-101489800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:101466800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:101467200-101490400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:101467400-101490400	Weak transcription	Fetal Lung	lung
6	chr7:101469000-101489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:101469200-101489800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:101469400-101489800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:101469600-101490000	Weak transcription	HepG2	liver
10	chr7:101470000-101496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:101472000-101490400	Weak transcription	Osteobl	bone
12	chr7:101473400-101490600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:101474800-101489800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:101476200-101489800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:101476200-101500000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:101476800-101490000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:101478600-101489800	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:101482800-101489800	Weak transcription	Lung	lung
19	chr7:101485200-101489800	Weak transcription	Ovary	ovary
20	chr7:101487400-101490000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:101487400-101490200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:101487400-101490200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:101487800-101490000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:101487800-101490000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:101488200-101492200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:101488400-101490000	Enhancers	Right Ventricle	heart
27	chr7:101488400-101490800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr7:101488400-101491200	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr7:101488600-101490000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:101488600-101490200	Strong transcription	Thymus	Thymus
31	chr7:101488600-101490800	Enhancers	Left Ventricle	heart
32	chr7:101488600-101490800	ZNF genes & repeats	A549	lung
33	chr7:101488800-101490200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:101488800-101490800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:101488800-101491000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:101488800-101492200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:101489000-101489800	Weak transcription	Fetal Heart	heart
38	chr7:101489000-101489800	Weak transcription	Dnd41	blood
39	chr7:101489000-101489800	Weak transcription	K562	blood
40	chr7:101489000-101490200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:101489000-101490200	Weak transcription	Hela-S3	cervix
42	chr7:101489200-101489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:101489200-101489800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:101489400-101489800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:101489400-101490800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:101489400-101491200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr7:101489600-101490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:101489600-101490000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:101489600-101490000	Enhancers	Right Atrium	heart
50	chr7:101489600-101490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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