Variant report

Variant	rs2327430
Chromosome Location	chr6:134210037-134210038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:134209987-134210286	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr6:134210007-134210779	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr6:134209984-134211441	H1-hESC	embryonic stem cell:	n/a	chr6:134211025-134211036
4	CTBP2	chr6:134209939-134211424	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr6:134209720-134211725	IMR90	lung:	n/a	chr6:134210035-134210045
6	POLR2A	chr6:134209990-134211599	ProgFib	skin:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC2A12-2	chr6:134209742-134210120	ENSG00000227954.2
2	lnc-SLC2A12-2	chr6:134209742-134210144	NR_109982
3	lnc-SLC2A12-2	chr6:134209742-134210120	ENSG00000227954.2
4	lnc-SLC2A12-2	chr6:134209742-134210144	ENSG00000227954.2

Variant related genes	Relation type
TCF21	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1041712	1.00[JPT][hapmap]
rs1336170	0.84[AFR][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	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2327430	AKAP7	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134207600-134211400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:134208800-134210600	Bivalent/Poised TSS	Fetal Brain Male	brain
3	chr6:134208800-134212000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
4	chr6:134209000-134210600	Active TSS	Right Atrium	heart
5	chr6:134209000-134210800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr6:134209000-134212200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr6:134209200-134215200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr6:134209400-134211200	Bivalent/Poised TSS	Fetal Lung	lung
9	chr6:134209400-134212200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr6:134209400-134212400	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr6:134209400-134214000	Active TSS	Ovary	ovary
12	chr6:134209600-134210200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr6:134209600-134210200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
14	chr6:134209600-134210200	Weak transcription	A549	lung
15	chr6:134209600-134210600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr6:134209600-134210800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr6:134209600-134210800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr6:134209600-134212000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr6:134209800-134210200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:134209800-134210200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:134209800-134210600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:134209800-134211400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:134209800-134211600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr6:134209800-134211600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr6:134209800-134213200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:134209800-134213200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:134210000-134210200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:134210000-134210200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:134210000-134210200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:134210000-134210400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
31	chr6:134210000-134210600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:134210000-134211000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr6:134210000-134211200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:134210000-134211200	Bivalent/Poised TSS	Osteobl	bone
35	chr6:134210000-134211400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:134210000-134211400	Flanking Bivalent TSS/Enh	NH-A	brain
37	chr6:134210000-134212000	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr6:134210000-134212200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr6:134210000-134212400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:134210000-134212400	Bivalent/Poised TSS	Placenta	Placenta
41	chr6:134210000-134213000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr6:134210000-134213000	Bivalent/Poised TSS	Left Ventricle	heart
43	chr6:134210000-134213200	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr6:134210000-134214000	Active TSS	NHLF	lung

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