Variant report

Variant	rs12125988
Chromosome Location	chr1:174845309-174845310
allele	C/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	KAP1	chr1:174845189-174845923	K562	blood:	n/a	chr1:174845555-174845563
2	CHD1	chr1:174843481-174845792	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174843626..174846037-chr1:174846205..174848852,2	K562	blood:
2	chr1:174844677..174847367-chr1:174890743..174892759,2	K562	blood:
3	chr1:174845164..174847813-chr1:174859843..174861856,2	K562	blood:
4	chr1:174838711..174843709-chr1:174844718..174847483,6	K562	blood:
5	chr1:174840446..174846237-chr1:174965266..174970099,5	MCF-7	breast:

Variant related genes	Relation type
RABGAP1L	TF binding region
ENSG00000252552	Chromatin interaction
ENSG00000235869	Chromatin interaction
ENSG00000237249	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000152061	Chromatin interaction

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

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

rs_ID	r²[population]
rs11802691	1.00[CHD][hapmap]
rs12041631	1.00[GIH][hapmap]
rs12074785	1.00[MEX][hapmap]
rs16847576	1.00[GIH][hapmap]
rs1970756	1.00[CHD][hapmap]
rs34927290	1.00[CHD][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174838600-174847400	Weak transcription	Esophagus	oesophagus
2	chr1:174840600-174846200	Enhancers	K562	blood
3	chr1:174840600-174846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:174841400-174846400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:174842000-174846600	Weak transcription	HSMMtube	muscle
6	chr1:174843200-174846400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:174843200-174846400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:174843200-174847000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:174843200-174847400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:174843400-174845400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:174843400-174845600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:174843400-174846000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:174843400-174846000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:174843400-174846000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:174843400-174846200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:174843400-174846400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:174843400-174846400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:174843400-174846400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:174843400-174846600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:174843400-174846600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:174843400-174846600	Active TSS	Fetal Intestine Small	intestine
22	chr1:174843400-174847400	Active TSS	Fetal Stomach	stomach
23	chr1:174843400-174847400	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr1:174843400-174847600	Active TSS	Fetal Intestine Large	intestine
25	chr1:174843600-174846800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:174843600-174846800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:174843600-174847000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:174843600-174847400	Active TSS	Stomach Mucosa	stomach
29	chr1:174844000-174845400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:174844000-174846400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:174844000-174846400	Weak transcription	Pancreas	Pancrea
32	chr1:174844000-174852000	Weak transcription	Left Ventricle	heart
33	chr1:174844000-174855200	Weak transcription	Right Atrium	heart
34	chr1:174844200-174846400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:174844200-174846400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:174844200-174846400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:174844200-174846400	Weak transcription	Colonic Mucosa	Colon
38	chr1:174844200-174852400	Weak transcription	Adipose Nuclei	Adipose
39	chr1:174844600-174845600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:174844600-174846400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:174844600-174846400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:174844600-174846400	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:174844600-174853000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:174844800-174845400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:174844800-174846400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:174844800-174852600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:174844800-174871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:174845000-174845400	Weak transcription	Brain Anterior Caudate	brain

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