Variant report

Variant	rs13196184
Chromosome Location	chr6:36206082-36206083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36097844..36100311-chr6:36203870..36206586,2	K562	blood:
2	chr6:36197473..36201829-chr6:36205316..36210325,5	MCF-7	breast:
3	chr6:36204276..36206815-chr6:36209360..36211589,2	K562	blood:
4	chr6:36206019..36207605-chr6:36389629..36391661,2	K562	blood:

Variant related genes	Relation type
ENSG00000180316	Chromatin interaction
ENSG00000156711	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10947591	1.00[ASN][1000 genomes]
rs12196677	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12197499	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs17356524	1.00[JPT][hapmap]
rs2032506	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2234075	1.00[CHB][hapmap]
rs2301422	1.00[ASN][1000 genomes]
rs34262487	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[ASN][1000 genomes]
rs6457884	1.00[CHB][hapmap]
rs6457892	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6457894	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71569325	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747793	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7773924	1.00[ASN][1000 genomes]
rs7775197	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9296177	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13196184	MAPK13	cis	lymphoblastoid	seeQTL
rs13196184	PXT1	cis	lymphoblastoid	seeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36185800-36210600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:36193800-36206800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:36194600-36207200	Weak transcription	Fetal Heart	heart
4	chr6:36196000-36209200	Weak transcription	K562	blood
5	chr6:36198400-36209200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:36198400-36211400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:36198800-36209600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:36199000-36210800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:36199400-36207400	Weak transcription	Brain Substantia Nigra	brain
10	chr6:36199400-36211000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:36199600-36209200	Weak transcription	GM12878-XiMat	blood
12	chr6:36199800-36211400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:36199800-36216200	Weak transcription	NHLF	lung
14	chr6:36200200-36208000	Weak transcription	Esophagus	oesophagus
15	chr6:36200200-36209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:36200200-36210600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:36200200-36211400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:36200200-36213000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:36200400-36207400	Weak transcription	HepG2	liver
20	chr6:36201200-36209200	Weak transcription	Right Ventricle	heart
21	chr6:36201200-36211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:36201200-36212200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:36201200-36212800	Weak transcription	Fetal Lung	lung
24	chr6:36201200-36215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:36201400-36207000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:36201400-36209000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:36201400-36209200	Weak transcription	Left Ventricle	heart
28	chr6:36201400-36211400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:36201400-36215600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:36201400-36216600	Weak transcription	Aorta	Aorta
31	chr6:36201600-36209000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:36201600-36209600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:36201600-36209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:36201600-36213400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:36201600-36213400	Weak transcription	Liver	Liver
36	chr6:36201600-36214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:36201600-36214800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:36201800-36206600	Weak transcription	HSMMtube	muscle
39	chr6:36201800-36207000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:36201800-36207800	Weak transcription	Gastric	stomach
41	chr6:36201800-36209000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:36201800-36209200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:36201800-36209200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:36201800-36209200	Weak transcription	Ovary	ovary
45	chr6:36201800-36209800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:36201800-36211000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:36201800-36211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:36201800-36211600	Weak transcription	HUVEC	blood vessel
49	chr6:36201800-36212600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:36201800-36215400	Weak transcription	Colon Smooth Muscle	Colon

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