Variant report

Variant	rs13007595
Chromosome Location	chr2:113514637-113514638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113512694..113515330-chr2:113521707..113523749,2	K562	blood:
2	chr2:113512278..113514695-chr2:113520095..113522998,4	MCF-7	breast:
3	chr2:113510501..113512344-chr2:113514021..113515645,2	K562	blood:
4	chr2:113506687..113509305-chr2:113514115..113515715,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL1A-2	chr2:113514531-113514791	NONHSAT073725

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28947200	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs3783531	1.00[CHB][hapmap];1.00[MEX][hapmap]

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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
6	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:113507400-113519200	Strong transcription	K562	blood
13	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:113507600-113518200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:113508000-113514800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
18	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:113508200-113515400	Enhancers	Fetal Intestine Small	intestine
20	chr2:113508200-113517800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:113508200-113519600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:113508200-113519800	Strong transcription	Fetal Thymus	thymus
23	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:113508400-113515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:113508400-113520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:113508600-113514800	Strong transcription	GM12878-XiMat	blood
28	chr2:113508800-113516400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:113508800-113519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:113509000-113516000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:113509400-113514800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr2:113509600-113518600	Weak transcription	Stomach Mucosa	stomach
33	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:113510200-113515200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:113510200-113518400	Strong transcription	NHEK	skin
36	chr2:113510200-113519400	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:113510400-113518000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:113510600-113520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:113510800-113518200	Strong transcription	HMEC	breast
41	chr2:113511000-113515000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:113511000-113517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:113511400-113514800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:113511400-113514800	Strong transcription	NH-A	brain
45	chr2:113511400-113514800	Strong transcription	Osteobl	bone
46	chr2:113511400-113518400	Strong transcription	HUVEC	blood vessel
47	chr2:113511400-113519800	Strong transcription	A549	lung
48	chr2:113511600-113515400	Strong transcription	Fetal Stomach	stomach
49	chr2:113511600-113517800	Strong transcription	HepG2	liver
50	chr2:113511800-113516600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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