Variant report

Variant	rs35888159
Chromosome Location	chr2:10440609-10440610
allele	G/T
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	SRF	chr2:10440494-10440727	HepG2	liver:	n/a	chr2:10440599-10440617
2	SRF	chr2:10440401-10440905	ECC-1	luminal epithelium:	n/a	chr2:10440599-10440617
3	SRF	chr2:10440498-10440620	GM12878	blood:	n/a	chr2:10440599-10440617
4	JUN	chr2:10440483-10440725	HepG2	liver:	n/a	chr2:10440640-10440653
5	SRF	chr2:10440460-10440716	GM12878	blood:	n/a	chr2:10440599-10440617
6	JUND	chr2:10440487-10440812	HepG2	liver:	n/a	n/a
7	EP300	chr2:10440497-10440764	Hela-S3	cervix:	n/a	n/a
8	FOS	chr2:10440490-10440688	MCF10A-Er-Src	breast:	n/a	n/a
9	SRF	chr2:10440489-10440711	H1-hESC	embryonic stem cell:	n/a	chr2:10440599-10440617
10	GATA3	chr2:10440537-10440738	SH-SY5Y	brain:	n/a	n/a
11	FOS	chr2:10440609-10440615	MCF10A-Er-Src	breast:	n/a	n/a
12	SRF	chr2:10440495-10440780	HepG2	liver:	n/a	chr2:10440599-10440617

No.	Distal block	Cell Line	Cell type
1	chr2:10440329..10443014-chr2:10447614..10450153,3	K562	blood:
2	chr2:10438477..10441704-chr2:10442402..10444544,4	MCF-7	breast:
3	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
4	chr2:10426724..10428299-chr2:10440170..10442093,2	K562	blood:
5	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:

Variant related genes	Relation type
ENSG00000206898	TF binding region
HPCAL1	TF binding region
ENSG00000115756	Chromatin interaction
ENSG00000264030	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12990770	1.00[ASN][1000 genomes]
rs2160204	1.00[AFR][1000 genomes]
rs34175448	1.00[ASN][1000 genomes]
rs71437701	1.00[ASN][1000 genomes]
rs71439004	1.00[ASN][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10435800-10441000	Weak transcription	Stomach Mucosa	stomach
2	chr2:10436000-10442000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:10436600-10442200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10437800-10441600	Weak transcription	Spleen	Spleen
5	chr2:10437800-10441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:10438400-10442000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:10438400-10442000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:10438600-10441000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:10438600-10441000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:10438600-10441000	Weak transcription	Small Intestine	intestine
11	chr2:10438600-10441000	Weak transcription	Thymus	Thymus
12	chr2:10438600-10441200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:10438600-10441200	Weak transcription	Esophagus	oesophagus
14	chr2:10438600-10441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:10438600-10441400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:10438600-10441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:10438600-10441600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:10438600-10441800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:10438600-10441800	Weak transcription	Lung	lung
20	chr2:10438600-10442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10438600-10442000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:10438600-10442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:10438600-10442000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:10438600-10442000	Weak transcription	Dnd41	blood
25	chr2:10438600-10442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:10438600-10442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:10438600-10442200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:10438600-10442200	Weak transcription	Psoas Muscle	Psoas
29	chr2:10438600-10442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:10438800-10440800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:10438800-10440800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:10438800-10440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:10438800-10440800	Weak transcription	K562	blood
34	chr2:10438800-10441200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:10438800-10441400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:10438800-10441400	Weak transcription	Placenta	Placenta
37	chr2:10438800-10441600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:10438800-10442000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:10438800-10442000	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:10438800-10442000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:10438800-10442200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:10438800-10442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:10438800-10442200	Weak transcription	HMEC	breast
44	chr2:10438800-10442200	Weak transcription	HSMMtube	muscle
45	chr2:10438800-10442200	Weak transcription	NHDF-Ad	bronchial
46	chr2:10438800-10442200	Weak transcription	NHEK	skin
47	chr2:10438800-10442200	Weak transcription	Osteobl	bone
48	chr2:10438800-10442600	Weak transcription	NHLF	lung
49	chr2:10439000-10440800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:10439000-10440800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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