Variant report

Variant	rs6847511
Chromosome Location	chr4:147107389-147107390
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147100998..147102686-chr4:147106253..147108281,2	K562	blood:
2	chr4:147106019..147107613-chr4:147111595..147114491,2	K562	blood:
3	chr4:147094825..147098572-chr4:147107210..147109613,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164167	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519775	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021144	1.00[AMR][1000 genomes]
rs17021196	1.00[AMR][1000 genomes]
rs17021212	0.82[AFR][1000 genomes]
rs17021230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41463144	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816161	0.87[YRI][hapmap]
rs6839123	0.85[YRI][hapmap]
rs6857745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7662843	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664522	1.00[AMR][1000 genomes]
rs7667848	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7683036	1.00[AMR][1000 genomes]
rs7694557	0.93[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147097600-147108800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:147097800-147108600	Weak transcription	HSMMtube	muscle
3	chr4:147097800-147108800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:147097800-147108800	Weak transcription	Esophagus	oesophagus
5	chr4:147097800-147111000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:147097800-147115400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:147098400-147107400	Weak transcription	HSMM	muscle
8	chr4:147098400-147107800	Weak transcription	Fetal Kidney	kidney
9	chr4:147098400-147108000	Weak transcription	NH-A	brain
10	chr4:147098400-147108800	Weak transcription	NHLF	lung
11	chr4:147098400-147111400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:147098400-147118600	Weak transcription	Colonic Mucosa	Colon
13	chr4:147098600-147107800	Weak transcription	HMEC	breast
14	chr4:147098600-147113800	Weak transcription	Hela-S3	cervix
15	chr4:147099000-147108400	Weak transcription	Aorta	Aorta
16	chr4:147099200-147107400	Weak transcription	Osteobl	bone
17	chr4:147099200-147107600	Weak transcription	Brain Germinal Matrix	brain
18	chr4:147099400-147107800	Weak transcription	Thymus	Thymus
19	chr4:147099400-147108000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:147099400-147108200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:147099400-147109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:147100000-147107800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:147100200-147107800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:147100200-147108800	Weak transcription	Fetal Stomach	stomach
25	chr4:147100200-147108800	Weak transcription	HUVEC	blood vessel
26	chr4:147101200-147108200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:147101200-147108800	Weak transcription	Fetal Brain Female	brain
28	chr4:147101400-147107800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:147101400-147107800	Weak transcription	HepG2	liver
30	chr4:147101400-147108000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:147101400-147108200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:147101400-147108800	Weak transcription	Spleen	Spleen
33	chr4:147101400-147111400	Weak transcription	Right Ventricle	heart
34	chr4:147101400-147114000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr4:147101400-147116200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:147101600-147107400	Weak transcription	Brain Substantia Nigra	brain
37	chr4:147101600-147107600	Weak transcription	Brain Anterior Caudate	brain
38	chr4:147101600-147107600	Weak transcription	Left Ventricle	heart
39	chr4:147101600-147107800	Weak transcription	Psoas Muscle	Psoas
40	chr4:147101600-147108000	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:147101600-147108000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:147101600-147108200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:147101600-147108400	Weak transcription	NHEK	skin
44	chr4:147101600-147108800	Weak transcription	Lung	lung
45	chr4:147101600-147108800	Weak transcription	Pancreas	Pancrea
46	chr4:147101600-147109400	Weak transcription	Fetal Intestine Small	intestine
47	chr4:147101600-147109400	Weak transcription	Gastric	stomach
48	chr4:147101600-147109800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:147101600-147111200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:147101600-147111200	Weak transcription	Small Intestine	intestine

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