Variant report

Variant	rs12094011
Chromosome Location	chr1:46114872-46114873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46114604-46114915	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46103708..46105890-chr1:46114077..46116308,2	K562	blood:
2	chr1:46113919..46122142-chr1:46149927..46154523,9	K562	blood:
3	chr1:46106035..46109902-chr1:46113481..46116474,3	K562	blood:
4	chr1:46110108..46112938-chr1:46113792..46115509,2	K562	blood:
5	chr1:46106624..46108539-chr1:46111914..46115684,3	K562	blood:
6	chr1:46112781..46115036-chr1:46118827..46120883,2	K562	blood:

No data

Variant related genes	Relation type
RPS15AP10	TF binding region
ENSG00000225447	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000159592	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211148	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211150	1.00[YRI][hapmap]
rs11211153	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211154	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211155	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211156	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12062361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070177	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[AMR][1000 genomes]
rs12085372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes]
rs12091360	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs16832540	1.00[AMR][1000 genomes]
rs16832550	1.00[AMR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[AMR][1000 genomes]
rs1691225	1.00[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs6690210	1.00[YRI][hapmap]
rs669417	1.00[AMR][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 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	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:46087600-46129200	Strong transcription	Fetal Thymus	thymus
3	chr1:46088600-46127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46089600-46126400	Strong transcription	Primary T cells from cord blood	blood
5	chr1:46089800-46127000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:46091000-46126400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:46091200-46120400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:46091200-46120800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:46091200-46127000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:46091200-46127000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:46091200-46127200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:46091200-46128200	Strong transcription	Dnd41	blood
13	chr1:46091400-46127000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:46091400-46127000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:46091400-46127000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:46092800-46120200	Strong transcription	HSMM	muscle
17	chr1:46093200-46127000	Strong transcription	K562	blood
18	chr1:46097200-46126800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:46098400-46133400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:46099400-46115800	Weak transcription	Fetal Brain Male	brain
21	chr1:46100200-46135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:46105400-46116800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:46106200-46140000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:46106400-46120200	Weak transcription	Psoas Muscle	Psoas
25	chr1:46106800-46116800	Weak transcription	Esophagus	oesophagus
26	chr1:46107000-46115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:46107000-46116200	Weak transcription	NH-A	brain
28	chr1:46107400-46115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:46107800-46116800	Weak transcription	Aorta	Aorta
30	chr1:46108000-46116000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:46108200-46116600	Weak transcription	Gastric	stomach
32	chr1:46108200-46116600	Weak transcription	Ovary	ovary
33	chr1:46108200-46116600	Weak transcription	Spleen	Spleen
34	chr1:46108600-46116800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:46108800-46116600	Weak transcription	Colonic Mucosa	Colon
36	chr1:46109000-46115800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:46109200-46115800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:46109400-46115400	Weak transcription	Fetal Kidney	kidney
39	chr1:46110600-46120200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:46110600-46122400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:46111200-46120200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr1:46111400-46122200	Strong transcription	GM12878-XiMat	blood
43	chr1:46111400-46126200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:46111400-46126400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:46111400-46126800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:46111600-46126000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:46111800-46115000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:46112000-46116600	Weak transcription	Pancreas	Pancrea
49	chr1:46112400-46120800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:46112600-46126800	Strong transcription	H1 Cell Line	embryonic stem cell

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