Variant report

Variant	rs7667848
Chromosome Location	chr4:147116569-147116570
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147111066..147113636-chr4:147115907..147120334,4	K562	blood:
2	chr4:147111066..147113405-chr4:147115907..147118837,2	K562	blood:
3	chr4:147116009..147117870-chr4:147118795..147120333,2	MCF-7	breast:
4	chr4:147116335..147119084-chr4:147119994..147121504,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10519775	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021144	1.00[AMR][1000 genomes]
rs17021196	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17021212	0.89[AFR][1000 genomes]
rs17021230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244840	1.00[MEX][hapmap]
rs2248826	1.00[MEX][hapmap]
rs2679153	1.00[MEX][hapmap]
rs41463144	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816161	0.87[YRI][hapmap]
rs6839123	0.81[LWK][hapmap];0.87[YRI][hapmap]
rs6847511	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6857745	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7662843	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664522	1.00[AMR][1000 genomes]
rs7683036	1.00[AMR][1000 genomes]
rs7694557	1.00[AFR][1000 genomes];1.00[AMR][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	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:147098400-147118600	Weak transcription	Colonic Mucosa	Colon
2	chr4:147103800-147117400	Strong transcription	Primary T cells from cord blood	blood
3	chr4:147109000-147116800	Weak transcription	Brain Substantia Nigra	brain
4	chr4:147109000-147123000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:147109800-147116800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:147109800-147126000	Weak transcription	Aorta	Aorta
7	chr4:147110000-147116600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:147110400-147116800	Weak transcription	Esophagus	oesophagus
9	chr4:147111800-147117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:147112000-147117000	Weak transcription	Ovary	ovary
11	chr4:147112000-147127200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:147112200-147116800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:147112200-147117000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:147112200-147118400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:147112200-147124800	Weak transcription	Spleen	Spleen
16	chr4:147112200-147125200	Weak transcription	Pancreas	Pancrea
17	chr4:147112400-147116800	Weak transcription	Dnd41	blood
18	chr4:147112800-147117000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:147112800-147127600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:147113000-147116600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:147113000-147117000	Weak transcription	HSMMtube	muscle
22	chr4:147113200-147123000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:147113200-147124200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:147113400-147124400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:147113600-147121400	Weak transcription	Primary B cells from cord blood	blood
26	chr4:147113800-147116600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:147113800-147116800	Weak transcription	HMEC	breast
28	chr4:147113800-147117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:147113800-147117400	Weak transcription	Placenta	Placenta
30	chr4:147113800-147117600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:147113800-147117800	Weak transcription	Fetal Thymus	thymus
32	chr4:147113800-147118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:147113800-147118800	Weak transcription	Thymus	Thymus
34	chr4:147113800-147124400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:147113800-147126400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:147113800-147127400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:147114000-147116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:147114000-147116600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:147114000-147116600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:147114000-147116600	Weak transcription	Fetal Stomach	stomach
41	chr4:147114000-147116600	Weak transcription	Left Ventricle	heart
42	chr4:147114000-147116600	Weak transcription	Osteobl	bone
43	chr4:147114000-147116800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:147114000-147117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:147114000-147118000	Weak transcription	HSMM	muscle
46	chr4:147114000-147118600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr4:147114000-147120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:147114000-147122000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:147114000-147123600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:147114000-147125200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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