Variant report

Variant	rs10847242
Chromosome Location	chr12:123079020-123079021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123078659..123081368-chr12:123242413..123244541,2	K562	blood:
2	chr12:46122516..46123361-chr12:123078570..123079462,2	NB4	blood:
3	chr12:123075043..123077747-chr12:123078360..123080361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10734924	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10744211	0.88[JPT][hapmap]
rs10744275	0.95[ASN][1000 genomes]
rs10744287	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10773152	0.88[JPT][hapmap]
rs10773208	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10773302	0.88[ASN][1000 genomes]
rs10773394	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10846921	1.00[JPT][hapmap]
rs10846978	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10847179	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10998	0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11058226	1.00[JPT][hapmap]
rs11058402	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1392236	0.96[ASN][1000 genomes]
rs1473553	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs1973463	0.88[JPT][hapmap]
rs2062506	0.85[ASN][1000 genomes]
rs2173628	0.90[ASN][1000 genomes]
rs3803005	0.92[ASN][1000 genomes]
rs4319547	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4758643	0.88[JPT][hapmap]
rs4758666	0.88[JPT][hapmap]
rs6488958	0.88[JPT][hapmap]
rs6489156	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6489157	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6489158	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7295105	0.92[ASN][1000 genomes]
rs7295397	0.93[ASN][1000 genomes]
rs7307233	0.92[ASN][1000 genomes]
rs7307735	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7309390	0.92[ASN][1000 genomes]
rs7314638	0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7316149	0.96[ASN][1000 genomes]
rs7316734	0.93[ASN][1000 genomes]
rs7397990	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7954006	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7955203	0.88[ASN][1000 genomes]
rs7959238	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7964138	1.00[JPT][hapmap]
rs7966094	0.93[ASN][1000 genomes]
rs7972728	0.88[ASN][1000 genomes]
rs9705654	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9988963	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]

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	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
3	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv983478	chr12:123062133-123080307	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv826530	chr12:123078987-123079752	Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10847242	HIP1R	cis	cerebellum	SCAN
rs10847242	SRRM4	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
12	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:123015400-123079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:123015600-123115000	Strong transcription	Dnd41	blood
17	chr12:123022200-123084600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
19	chr12:123026000-123081000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:123029200-123085000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
24	chr12:123037600-123095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
27	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:123042800-123080000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:123046400-123084800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:123047200-123080600	Strong transcription	Fetal Thymus	thymus
32	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:123052400-123080200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:123052600-123079600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:123057400-123084400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:123058600-123110200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:123060200-123113000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:123067200-123094200	Weak transcription	Fetal Kidney	kidney
41	chr12:123067400-123095600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:123067600-123090000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:123067800-123089200	Weak transcription	Placenta	Placenta
44	chr12:123068000-123095400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:123069400-123079400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:123069600-123099400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:123070600-123089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:123071200-123095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:123072600-123089200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:123072600-123095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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