Variant report

Variant	rs7955585
Chromosome Location	chr12:32114454-32114455
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	MAFK	chr12:32114402-32114579	K562	blood:	n/a	chr12:32114520-32114536 chr12:32114518-32114538 chr12:32114521-32114535
2	POLR2A	chr12:32114106-32114488	GM12878	blood:	n/a	n/a
3	RUNX3	chr12:32113962-32114462	GM12878	blood:	n/a	chr12:32114225-32114234 chr12:32114225-32114234
4	BHLHE40	chr12:32114136-32114704	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:32114117-32114605	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:32111353-32114812	GM12891	blood:	n/a	n/a
7	RUNX3	chr12:32113998-32114497	GM12878	blood:	n/a	chr12:32114225-32114234 chr12:32114225-32114234
8	POLR2A	chr12:32111831-32114765	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr12:32114326-32114472	GM12878	blood:	n/a	n/a
10	ZNF384	chr12:32114361-32114492	K562	blood:	n/a	n/a
11	POLR2A	chr12:32114098-32115031	GM12892	blood:	n/a	n/a
12	TBL1XR1	chr12:32114384-32114554	K562	blood:	n/a	n/a
13	EBF1	chr12:32114275-32114535	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:32113655-32115761	K562	blood:	n/a	n/a
15	MAFF	chr12:32114359-32114667	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31878745..31882142-chr12:32111934..32114509,3	K562	blood:
2	chr12:31868001..31870341-chr12:32112733..32115276,2	K562	blood:
3	chr12:32081705..32084411-chr12:32112692..32114835,2	K562	blood:

Variant related genes	Relation type
KIAA1551	TF binding region
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10771891	0.83[MEX][hapmap]
rs1868208	0.86[EUR][1000 genomes]
rs4931593	0.83[MEX][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32111200-32114800	Active TSS	Right Atrium	heart
2	chr12:32111200-32116000	Active TSS	Ovary	ovary
3	chr12:32111400-32114600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:32111400-32114600	Active TSS	Aorta	Aorta
5	chr12:32111800-32114600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:32111800-32115800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr12:32112000-32114800	Active TSS	Esophagus	oesophagus
8	chr12:32113000-32115000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:32113000-32115600	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr12:32113200-32114600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:32113400-32114600	Flanking Active TSS	Fetal Kidney	kidney
12	chr12:32113400-32114800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
13	chr12:32113400-32118600	Weak transcription	Pancreas	Pancrea
14	chr12:32113400-32121000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
15	chr12:32113600-32114600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
16	chr12:32113600-32114600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr12:32113600-32114600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr12:32113600-32114800	Flanking Active TSS	Fetal Brain Female	brain
19	chr12:32113600-32115200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:32113600-32115600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
21	chr12:32113600-32115800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
22	chr12:32113600-32116000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
23	chr12:32113600-32120800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
24	chr12:32113800-32115000	Genic enhancers	Fetal Lung	lung
25	chr12:32113800-32115400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
26	chr12:32113800-32115400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
27	chr12:32113800-32115600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
28	chr12:32113800-32115600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
29	chr12:32113800-32115600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
30	chr12:32113800-32115600	Enhancers	HepG2	liver
31	chr12:32113800-32115800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:32113800-32116600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
33	chr12:32113800-32117800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:32113800-32118600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
35	chr12:32113800-32120200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
36	chr12:32113800-32123400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:32114000-32114600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:32114000-32114600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:32114000-32114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:32114000-32114600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:32114000-32114600	Transcr. at gene 5' and 3'	Placenta	Placenta
42	chr12:32114000-32114600	Enhancers	NHDF-Ad	bronchial
43	chr12:32114000-32114800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:32114000-32114800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:32114000-32115000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr12:32114000-32115000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:32114000-32115000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:32114000-32115000	Enhancers	Colon Smooth Muscle	Colon
49	chr12:32114000-32115000	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr12:32114000-32115000	Genic enhancers	NHEK	skin

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