Variant report

Variant	rs10234321
Chromosome Location	chr7:101714905-101714906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101714618..101716538-chr7:101724031..101725533,2	K562	blood:
2	chr7:101714618..101716441-chr7:101723476..101725531,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10224866	0.97[EUR][1000 genomes]
rs10225745	0.94[EUR][1000 genomes]
rs10230856	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10242721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10244039	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10254170	0.85[EUR][1000 genomes]
rs10268506	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12112504	0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12113028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12113693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58886458	0.94[EUR][1000 genomes]
rs7802186	0.91[EUR][1000 genomes]
rs7802265	0.91[EUR][1000 genomes]
rs7804429	0.85[EUR][1000 genomes]
rs7808639	0.85[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	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
2	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
2	chr7:101707200-101738000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:101707400-101715800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:101707600-101716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:101708000-101715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:101708000-101722800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:101708200-101722000	Weak transcription	NH-A	brain
8	chr7:101708200-101723000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:101708200-101765000	Weak transcription	Small Intestine	intestine
10	chr7:101708400-101720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:101708400-101720400	Weak transcription	HMEC	breast
12	chr7:101708400-101722800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:101708400-101722800	Weak transcription	Right Atrium	heart
14	chr7:101708400-101726000	Weak transcription	NHEK	skin
15	chr7:101709400-101720000	Strong transcription	Fetal Stomach	stomach
16	chr7:101709600-101715200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:101710400-101715200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:101711000-101723200	Weak transcription	Brain Angular Gyrus	brain
19	chr7:101711800-101715800	Strong transcription	Liver	Liver
20	chr7:101711800-101717000	Strong transcription	HepG2	liver
21	chr7:101712000-101715200	Strong transcription	Primary T cells from cord blood	blood
22	chr7:101712000-101715800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:101712000-101716000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr7:101712000-101716000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:101712000-101718000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:101712000-101719600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:101712200-101716000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:101712400-101715200	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:101712400-101718800	Strong transcription	Fetal Intestine Large	intestine
30	chr7:101712800-101719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:101712800-101721800	Weak transcription	Fetal Heart	heart
32	chr7:101713000-101716400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr7:101713200-101715000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:101713200-101715400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:101713200-101715600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:101713200-101716000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:101713400-101715000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:101713400-101715400	Strong transcription	Placenta	Placenta
39	chr7:101713600-101715000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:101713600-101715400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:101713600-101715600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:101713600-101716000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:101713600-101716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:101713800-101715000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:101713800-101715000	Strong transcription	Fetal Lung	lung
46	chr7:101713800-101715200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:101713800-101715200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:101713800-101715200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:101713800-101715200	Strong transcription	Rectal Smooth Muscle	rectum
50	chr7:101713800-101715400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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