Variant report

Variant	rs1135118
Chromosome Location	chr2:178098831-178098832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:178098619-178099206	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:178098394-178098831	HepG2	liver:	n/a	n/a
3	GATA3	chr2:178098696-178099353	MCF-7	breast:	n/a	chr2:178099244-178099257
4	POLR2A	chr2:178098523-178098898	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:178084709-178099695	HepG2	liver:	n/a	n/a
6	GATA3	chr2:178098737-178099173	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:178098371-178099554	HepG2	liver:	n/a	n/a
8	GATA3	chr2:178098615-178099059	MCF-7	breast:	n/a	n/a
9	POLR2A	chr2:178098343-178099688	A549	lung:	n/a	n/a
10	GATA3	chr2:178098678-178099030	T-47D	breast:	n/a	n/a
11	GATA3	chr2:178098714-178099111	T-47D	breast:	n/a	n/a
12	POLR2A	chr2:178098372-178098868	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:178084575-178099648	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178097414..178099677-chr2:178111706..178113385,2	MCF-7	breast:
2	chr2:178090995..178099266-chr2:178122532..178131742,19	MCF-7	breast:

Variant related genes	Relation type
NFE2L2	TF binding region
DNAJC19P5	TF binding region
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497508	1.00[LWK][hapmap]
rs12987686	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834465	chr2:178067294-178115113	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178078600-178121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:178080600-178099800	Weak transcription	Right Atrium	heart
3	chr2:178081800-178101400	Strong transcription	Fetal Thymus	thymus
4	chr2:178084000-178110000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:178086400-178099400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr2:178087600-178104800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:178087600-178106400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:178092000-178099600	Strong transcription	Fetal Kidney	kidney
9	chr2:178092200-178100000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:178092200-178101000	Strong transcription	NHLF	lung
11	chr2:178092200-178101200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:178092200-178102200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:178092400-178100600	Strong transcription	Osteobl	bone
14	chr2:178092400-178101200	Strong transcription	Primary B cells from cord blood	blood
15	chr2:178092400-178102600	Strong transcription	Primary T cells from cord blood	blood
16	chr2:178092800-178099600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:178092800-178099600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:178092800-178101600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:178093000-178099000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:178093400-178099600	Strong transcription	Fetal Intestine Large	intestine
21	chr2:178093600-178099000	Strong transcription	Adipose Nuclei	Adipose
22	chr2:178093600-178099000	Strong transcription	Colon Smooth Muscle	Colon
23	chr2:178093600-178099000	Strong transcription	NH-A	brain
24	chr2:178093600-178099200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:178093600-178099400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:178093600-178099600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr2:178093600-178100600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:178093600-178100600	Strong transcription	HSMM	muscle
29	chr2:178093600-178101400	Strong transcription	Dnd41	blood
30	chr2:178093800-178099200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:178093800-178099400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:178093800-178099400	Strong transcription	NHDF-Ad	bronchial
33	chr2:178093800-178100400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:178093800-178100600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:178093800-178101200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr2:178094000-178099000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:178094000-178099000	Strong transcription	Fetal Lung	lung
38	chr2:178094000-178099000	Strong transcription	Lung	lung
39	chr2:178094000-178099000	Strong transcription	HUVEC	blood vessel
40	chr2:178094000-178099400	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:178094000-178099600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:178094000-178099600	Strong transcription	K562	blood
43	chr2:178094000-178100200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:178094000-178100400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:178094000-178100600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:178094000-178101000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:178094200-178099000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:178094200-178099200	Strong transcription	Colonic Mucosa	Colon
49	chr2:178094200-178099200	Strong transcription	Hela-S3	cervix
50	chr2:178094200-178100200	Strong transcription	Primary T cells fromperipheralblood	blood

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