Variant report

Variant	rs12061403
Chromosome Location	chr1:174924930-174924931
allele	A/C
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	POLR2A	chr1:174924895-174924985	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174923792..174926016-chr1:174927596..174930266,2	MCF-7	breast:
2	chr1:174923198..174925384-chr1:174966768..174969238,3	K562	blood:
3	chr1:174908320..174910168-chr1:174924231..174926585,2	K562	blood:

Variant related genes	Relation type
ENSG00000229531	TF binding region
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489331	1.00[EUR][1000 genomes]
rs10489334	1.00[EUR][1000 genomes]
rs10912852	1.00[EUR][1000 genomes]
rs10912862	1.00[EUR][1000 genomes]
rs10912866	1.00[EUR][1000 genomes]
rs10912869	1.00[EUR][1000 genomes]
rs12062145	1.00[EUR][1000 genomes]
rs12072529	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12075140	1.00[EUR][1000 genomes]
rs12089375	1.00[EUR][1000 genomes]
rs13376513	1.00[EUR][1000 genomes]
rs16847652	1.00[EUR][1000 genomes]
rs16847670	1.00[EUR][1000 genomes]
rs16847689	1.00[EUR][1000 genomes]
rs16847701	1.00[EUR][1000 genomes]
rs1894679	1.00[EUR][1000 genomes]
rs4650677	1.00[EUR][1000 genomes]
rs57512007	1.00[EUR][1000 genomes]
rs58503437	1.00[EUR][1000 genomes]
rs60411387	1.00[EUR][1000 genomes]
rs6425311	1.00[EUR][1000 genomes]
rs6689751	1.00[EUR][1000 genomes]
rs74128526	1.00[EUR][1000 genomes]
rs74128530	1.00[EUR][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	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
2	esv1794782	chr1:174900761-174925112	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
3	chr1:174908000-174926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:174908600-174927400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:174908800-174932200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174910400-174932400	Weak transcription	HSMMtube	muscle
8	chr1:174910800-174925800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:174912200-174925400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:174912600-174934800	Weak transcription	Left Ventricle	heart
12	chr1:174914800-174932800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:174919200-174926600	Enhancers	Fetal Intestine Large	intestine
14	chr1:174920800-174926200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:174921200-174925200	Enhancers	Fetal Intestine Small	intestine
16	chr1:174921400-174925000	Enhancers	Placenta	Placenta
17	chr1:174921800-174925000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:174922000-174925000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:174922200-174926600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:174922400-174925400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:174922600-174925000	Enhancers	Brain Angular Gyrus	brain
22	chr1:174922800-174925000	Enhancers	Pancreas	Pancrea
23	chr1:174922800-174925000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:174922800-174927200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:174923000-174925600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:174923000-174926200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:174923000-174927600	Weak transcription	Right Atrium	heart
28	chr1:174923000-174933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:174923400-174932400	Weak transcription	Fetal Heart	heart
30	chr1:174923600-174925600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:174923800-174925000	Enhancers	Gastric	stomach
32	chr1:174923800-174925000	Enhancers	Stomach Mucosa	stomach
33	chr1:174923800-174926200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:174923800-174927200	Enhancers	Small Intestine	intestine
35	chr1:174924000-174926400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:174924000-174927600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:174924000-174932200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:174924000-174932400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:174924000-174933400	Weak transcription	Ovary	ovary
40	chr1:174924000-174933800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:174924000-174938200	Weak transcription	Psoas Muscle	Psoas
42	chr1:174924200-174925000	Enhancers	GM12878-XiMat	blood
43	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
44	chr1:174924400-174925000	Enhancers	Primary B cells from cord blood	blood
45	chr1:174924400-174926200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:174924400-174926400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:174924400-174926400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:174924400-174926600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:174924400-174926800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:174924400-174927000	Weak transcription	Brain Anterior Caudate	brain

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