Variant report

Variant	rs312157
Chromosome Location	chr12:105122365-105122366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105118825..105122696-chr12:105123025..105128000,6	K562	blood:
2	chr12:105121311..105124044-chr12:105125016..105127574,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs182587	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs312149	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs312150	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312151	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312154	0.82[ASW][hapmap];0.85[CEU][hapmap];0.91[LWK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs312155	0.88[ASW][hapmap];0.85[CEU][hapmap];0.85[LWK][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs312158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312160	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312161	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312162	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312163	0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs312165	0.86[CEU][hapmap]
rs312166	0.83[TSI][hapmap]
rs312167	0.83[TSI][hapmap]
rs312169	0.87[TSI][hapmap]
rs312170	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105080400-105131800	Weak transcription	NHEK	skin
2	chr12:105114400-105125800	Weak transcription	Fetal Brain Female	brain
3	chr12:105115000-105129800	Weak transcription	Fetal Lung	lung
4	chr12:105115200-105122400	Weak transcription	Right Ventricle	heart
5	chr12:105115200-105124400	Weak transcription	Spleen	Spleen
6	chr12:105115200-105124800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:105115200-105129600	Weak transcription	Placenta	Placenta
8	chr12:105115400-105128800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:105115600-105128400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:105116000-105125800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:105116000-105131600	Weak transcription	Esophagus	oesophagus
12	chr12:105116200-105126400	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:105116600-105128400	Weak transcription	A549	lung
14	chr12:105116800-105125800	Weak transcription	Primary T cells from cord blood	blood
15	chr12:105116800-105126400	Weak transcription	Brain Germinal Matrix	brain
16	chr12:105117000-105123000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:105117000-105123000	Weak transcription	Left Ventricle	heart
18	chr12:105117000-105124000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:105117000-105125800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:105117000-105127000	Strong transcription	Dnd41	blood
21	chr12:105117200-105123600	Weak transcription	Primary B cells from cord blood	blood
22	chr12:105117200-105126400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:105117400-105126400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:105117400-105127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:105117400-105127600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:105117600-105122400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:105117600-105122400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:105117600-105123400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:105117600-105124200	Weak transcription	Fetal Stomach	stomach
30	chr12:105117600-105126600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:105117600-105126800	Weak transcription	Thymus	Thymus
32	chr12:105117800-105129400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:105117800-105129400	Weak transcription	GM12878-XiMat	blood
34	chr12:105118000-105125600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:105118400-105124200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:105118400-105124200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:105118400-105131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:105119600-105123000	Weak transcription	Right Atrium	heart
39	chr12:105119800-105122800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:105120200-105123000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:105120200-105130000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:105120800-105123200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:105121000-105123000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:105121000-105123000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:105121000-105123400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:105121000-105123400	Enhancers	K562	blood
47	chr12:105121000-105125000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:105121200-105123600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:105121200-105125600	Enhancers	Fetal Muscle Leg	muscle
50	chr12:105121400-105123200	Enhancers	HUVEC	blood vessel

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