Variant report

Variant	rs236444
Chromosome Location	chr6:36723704-36723705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36560234..36563233-chr6:36722828..36725947,3	MCF-7	breast:
2	chr2:118726014..118726874-chr6:36723341..36724132,2	MCF-7	breast:
3	chr6:36584311..36585307-chr6:36723337..36724036,2	MCF-7	breast:
4	chr6:36584660..36585379-chr6:36723253..36723898,2	MCF-7	breast:
5	chr6:36565352..36567022-chr6:36722570..36724829,2	MCF-7	breast:
6	chr6:36722398..36723937-chr6:37026660..37028558,2	MCF-7	breast:
7	chr6:36710588..36713306-chr6:36722738..36724865,2	MCF-7	breast:
8	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
9	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1010790	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1010791	1.00[CEU][hapmap];0.89[GIH][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs1064827	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1864750	0.95[CEU][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs2052990	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236436	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs236441	0.89[GIH][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes]
rs236452	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs370687	1.00[CHB][hapmap]
rs4711464	0.84[CHD][hapmap];0.84[ASN][1000 genomes]
rs6927504	0.84[ASN][1000 genomes]
rs763047	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs763048	0.95[CHB][hapmap];0.91[CHD][hapmap];0.92[ASN][1000 genomes]
rs7772191	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs9380596	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380597	0.81[GIH][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes]
rs9394380	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9462215	0.95[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs236444	MAPK14	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36709200-36727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:36718600-36724200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr6:36718600-36725400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:36718600-36725800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:36718600-36726600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:36718800-36726800	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:36718800-36727400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:36718800-36727400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:36719400-36724000	Enhancers	Colonic Mucosa	Colon
10	chr6:36719600-36724000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:36719600-36724800	Enhancers	Esophagus	oesophagus
12	chr6:36719600-36725800	Enhancers	HUVEC	blood vessel
13	chr6:36719600-36727000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr6:36719800-36724800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:36719800-36725600	Enhancers	Spleen	Spleen
16	chr6:36719800-36726000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:36720000-36724000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:36720000-36726200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:36720200-36726400	Weak transcription	Pancreas	Pancrea
20	chr6:36720600-36723800	Weak transcription	Lung	lung
21	chr6:36720600-36725600	Flanking Active TSS	GM12878-XiMat	blood
22	chr6:36720600-36726400	Weak transcription	HMEC	breast
23	chr6:36721000-36724400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:36721200-36725400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:36721200-36726600	Weak transcription	Brain Anterior Caudate	brain
26	chr6:36721200-36726600	Weak transcription	Fetal Heart	heart
27	chr6:36721200-36726600	Weak transcription	HSMMtube	muscle
28	chr6:36721400-36726400	Weak transcription	Fetal Intestine Large	intestine
29	chr6:36721400-36726600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:36721400-36728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:36721600-36723800	Weak transcription	Small Intestine	intestine
32	chr6:36721800-36724400	Weak transcription	Right Ventricle	heart
33	chr6:36721800-36725600	Enhancers	Fetal Thymus	thymus
34	chr6:36721800-36726600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:36721800-36726600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:36721800-36733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:36722400-36725600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr6:36722400-36725600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:36722600-36723800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:36722600-36723800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:36722600-36724000	Strong transcription	Fetal Stomach	stomach
42	chr6:36722600-36725800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:36722800-36724400	Enhancers	Primary T cells from cord blood	blood
44	chr6:36722800-36724400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:36722800-36724800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:36722800-36725200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr6:36722800-36727600	Enhancers	Stomach Mucosa	stomach
48	chr6:36722800-36748200	Weak transcription	Fetal Kidney	kidney
49	chr6:36723000-36723800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:36723000-36724200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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