Variant report

Variant	rs11970548
Chromosome Location	chr6:14823968-14823969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14823162..14824752-chr6:14829920..14831830,2	K562	blood:
2	chr6:14822109..14824078-chr6:15473056..15474795,2	K562	blood:
3	chr6:14814509..14817952-chr6:14819306..14824906,6	K562	blood:
4	chr6:14823252..14825585-chr6:14828791..14831420,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11751114	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258993	0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap]
rs16875778	0.96[ASN][1000 genomes]
rs16875782	0.96[ASN][1000 genomes]
rs16875788	0.82[MEX][hapmap]
rs2031298	0.96[ASN][1000 genomes]
rs233482	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233483	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233484	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233485	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233486	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233487	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233488	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233489	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233491	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233494	0.93[EUR][1000 genomes]
rs394849	1.00[MEX][hapmap]
rs41472949	0.82[MEX][hapmap]
rs425233	0.84[MEX][hapmap]
rs443427	0.84[MEX][hapmap]
rs4537147	1.00[ASN][1000 genomes]
rs60681633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390273	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390274	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390275	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390276	1.00[ASN][1000 genomes]
rs62390277	1.00[ASN][1000 genomes]
rs62390278	0.96[ASN][1000 genomes]
rs62390279	0.96[ASN][1000 genomes]
rs62390280	0.96[ASN][1000 genomes]
rs62390283	0.96[ASN][1000 genomes]
rs62390284	0.96[ASN][1000 genomes]
rs62390285	0.96[ASN][1000 genomes]
rs62390288	0.96[ASN][1000 genomes]
rs6927683	0.96[ASN][1000 genomes]
rs6939905	0.96[ASN][1000 genomes]
rs9476665	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14809000-14824400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:14812200-14824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:14816400-14824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:14816800-14824000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:14817000-14824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:14818800-14824000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:14819400-14824400	Weak transcription	Fetal Heart	heart
8	chr6:14819400-14824600	Weak transcription	Fetal Intestine Large	intestine
9	chr6:14819400-14828400	Weak transcription	Colonic Mucosa	Colon
10	chr6:14819600-14824000	Weak transcription	Right Atrium	heart
11	chr6:14819600-14824000	Weak transcription	Right Ventricle	heart
12	chr6:14819600-14824200	Weak transcription	Left Ventricle	heart
13	chr6:14820000-14824200	Weak transcription	Gastric	stomach
14	chr6:14820000-14824200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:14820000-14824400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:14820000-14825000	Weak transcription	Fetal Intestine Small	intestine
17	chr6:14820200-14824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:14820800-14825400	Enhancers	NHDF-Ad	bronchial
19	chr6:14821200-14824200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:14821200-14824400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:14821200-14826400	Weak transcription	Stomach Mucosa	stomach
22	chr6:14821400-14824400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:14822000-14824200	Enhancers	NHLF	lung
24	chr6:14822200-14824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:14822200-14824200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:14822200-14827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:14822400-14826600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:14822600-14824000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:14822600-14824000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:14822800-14824000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:14822800-14824000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:14822800-14824000	Weak transcription	Fetal Lung	lung
33	chr6:14822800-14824200	Weak transcription	Fetal Stomach	stomach
34	chr6:14822800-14826600	Enhancers	Adipose Nuclei	Adipose
35	chr6:14823000-14824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:14823000-14824000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:14823000-14824200	Weak transcription	Fetal Kidney	kidney
38	chr6:14823200-14824800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:14823200-14825800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:14823200-14826800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:14823200-14827400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:14823400-14824400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:14823400-14825400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:14823400-14825400	Enhancers	Colon Smooth Muscle	Colon
45	chr6:14823400-14827200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:14823400-14827400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:14823800-14824200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:14823800-14825400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:14823800-14825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:14823800-14827400	Enhancers	Cortex derived primary cultured neurospheres	brain

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