Variant report

Variant	rs6844571
Chromosome Location	chr4:82342770-82342771
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:82330902..82334984-chr4:82339313..82344776,5	K562	blood:
2	chr4:82340135..82342826-chr4:82350602..82352367,3	K562	blood:
3	chr4:82342653..82344315-chr4:82756584..82758105,2	K562	blood:
4	chr4:82342729..82344646-chr4:82349482..82351498,2	K562	blood:
5	chr4:82341740..82344236-chr4:82345813..82347931,2	MCF-7	breast:
6	chr4:82327129..82328804-chr4:82341208..82343737,2	K562	blood:
7	chr4:82341314..82344179-chr4:82360678..82363894,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17005126	1.00[AMR][1000 genomes]
rs17005137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58912953	0.86[AFR][1000 genomes]
rs59142056	0.93[AFR][1000 genomes]
rs61321904	0.93[AFR][1000 genomes]
rs6831308	1.00[AMR][1000 genomes]
rs6847878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6849758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6854417	1.00[AMR][1000 genomes]
rs72876506	0.93[AFR][1000 genomes]
rs72876510	0.93[AFR][1000 genomes]
rs72876537	0.93[AFR][1000 genomes]
rs72876542	0.93[AFR][1000 genomes]
rs72876555	0.93[AFR][1000 genomes]
rs72883090	0.86[AFR][1000 genomes]
rs7690171	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829985	chr4:82199328-82353656	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv517921	chr4:82315470-82346835	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82334400-82342800	Weak transcription	Brain Substantia Nigra	brain
2	chr4:82335000-82345600	Weak transcription	Aorta	Aorta
3	chr4:82339400-82350000	Weak transcription	Gastric	stomach
4	chr4:82339600-82343000	Weak transcription	Small Intestine	intestine
5	chr4:82340200-82345600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:82340600-82346600	Weak transcription	Primary T cells from cord blood	blood
7	chr4:82341000-82350600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:82341200-82343400	Flanking Active TSS	K562	blood
9	chr4:82341200-82344000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:82341200-82344000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:82341200-82344200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:82341600-82344200	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:82342000-82344200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:82342000-82344400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:82342000-82347400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:82342200-82344000	Enhancers	Stomach Mucosa	stomach
17	chr4:82342400-82342800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:82342400-82343000	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:82342400-82343400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:82342400-82343400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:82342400-82343400	Enhancers	Fetal Intestine Large	intestine
22	chr4:82342400-82343600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:82342400-82344000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:82342400-82344000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:82342400-82344000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:82342400-82344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:82342400-82344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:82342400-82344000	Enhancers	Fetal Intestine Small	intestine
29	chr4:82342400-82348600	Enhancers	NHEK	skin
30	chr4:82342600-82342800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:82342600-82342800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:82342600-82342800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:82342600-82342800	Enhancers	Colon Smooth Muscle	Colon
34	chr4:82342600-82343000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:82342600-82343000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:82342600-82343000	Enhancers	Fetal Stomach	stomach
37	chr4:82342600-82343000	Enhancers	NH-A	brain
38	chr4:82342600-82343200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr4:82342600-82343200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:82342600-82343200	Weak transcription	Colonic Mucosa	Colon
41	chr4:82342600-82343200	Enhancers	Pancreas	Pancrea
42	chr4:82342600-82343200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr4:82342600-82343400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:82342600-82343400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:82342600-82343400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:82342600-82344000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:82342600-82344000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:82342600-82344000	Enhancers	GM12878-XiMat	blood
49	chr4:82342600-82344600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr4:82342600-82345800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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