Variant report

Variant	rs10190942
Chromosome Location	chr2:113509639-113509640
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	chr2:113508862..113511630-chr2:113521788..113524103,2	K562	blood:
2	chr2:113508884..113510742-chr2:113519395..113521615,3	K562	blood:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10176689	1.00[AMR][1000 genomes]
rs10183049	1.00[AMR][1000 genomes]
rs10206303	1.00[AMR][1000 genomes]
rs1143641	1.00[AMR][1000 genomes]
rs13424846	1.00[AMR][1000 genomes]
rs7591401	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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
4	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
8	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:113496800-113509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
13	chr2:113499000-113511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:113499000-113511400	Weak transcription	Gastric	stomach
15	chr2:113499200-113512000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:113500000-113511400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:113500200-113511000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:113500400-113511400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:113504200-113510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:113505400-113511400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:113505400-113511400	Weak transcription	Placenta	Placenta
23	chr2:113505600-113513400	Weak transcription	Hela-S3	cervix
24	chr2:113506400-113510200	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:113507000-113511600	Genic enhancers	HepG2	liver
27	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:113507400-113511400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:113507400-113513000	Enhancers	Liver	Liver
30	chr2:113507400-113513800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:113507400-113519200	Strong transcription	K562	blood
32	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:113507600-113510600	Enhancers	Osteobl	bone
34	chr2:113507600-113518200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:113507800-113509800	Strong transcription	HUVEC	blood vessel
36	chr2:113507800-113510000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:113507800-113512200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:113507800-113513600	Weak transcription	Fetal Brain Female	brain
39	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:113508000-113511200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:113508000-113511400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:113508000-113511800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:113508000-113511800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:113508000-113512400	Weak transcription	Primary B cells from cord blood	blood
45	chr2:113508000-113514800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
47	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:113508200-113510200	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:113508200-113510200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:113508200-113510200	Weak transcription	Thymus	Thymus

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