Variant report

Variant	rs10173785
Chromosome Location	chr2:73211782-73211783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73211750..73213775-chr2:73388191..73390980,2	K562	blood:
2	chr2:73207861..73209577-chr2:73210752..73213199,2	K562	blood:
3	chr2:73206471..73208631-chr2:73211515..73214003,2	K562	blood:
4	chr2:73210632..73213352-chr2:73215376..73218123,3	K562	blood:
5	chr2:73210632..73213352-chr2:73216229..73218123,2	K562	blood:
6	chr2:73187354..73189306-chr2:73210537..73212976,2	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10202635	0.83[YRI][hapmap]
rs13388577	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13390492	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13401894	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73168800-73226800	Weak transcription	NHLF	lung
2	chr2:73176600-73227400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:73177400-73215200	Weak transcription	Osteobl	bone
4	chr2:73178000-73214800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:73181800-73215200	Weak transcription	Thymus	Thymus
6	chr2:73182800-73213000	Weak transcription	Fetal Lung	lung
7	chr2:73183200-73228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:73185000-73214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:73193600-73221200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:73198600-73220000	Weak transcription	Small Intestine	intestine
13	chr2:73203200-73218400	Weak transcription	Brain Germinal Matrix	brain
14	chr2:73207200-73213600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:73207200-73214200	Enhancers	Left Ventricle	heart
16	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:73208000-73215000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:73208000-73215200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
20	chr2:73208200-73212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:73208200-73217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:73208200-73218000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:73208200-73227000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:73208400-73217200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:73208400-73227400	Weak transcription	A549	lung
26	chr2:73208400-73227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:73208600-73217200	Weak transcription	NHEK	skin
28	chr2:73208600-73217800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:73208600-73227200	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:73209000-73227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:73209000-73227200	Weak transcription	HSMM	muscle
32	chr2:73209400-73212000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:73209400-73218800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:73209400-73219200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:73209600-73212000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:73209600-73212400	Strong transcription	Lung	lung
37	chr2:73209600-73214000	Enhancers	Right Atrium	heart
38	chr2:73209600-73214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:73209600-73214400	Enhancers	Liver	Liver
40	chr2:73209600-73215000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:73209600-73217000	Weak transcription	HMEC	breast
42	chr2:73209600-73217200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:73209600-73217600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:73209600-73219600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:73209800-73212400	Strong transcription	Esophagus	oesophagus
46	chr2:73209800-73212400	Enhancers	Fetal Muscle Leg	muscle
47	chr2:73209800-73213400	Enhancers	Psoas Muscle	Psoas
48	chr2:73209800-73214000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:73210000-73213800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:73210000-73213800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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