Variant report

Variant	rs9357164
Chromosome Location	chr6:33761021-33761022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33760929-33761044	K562	blood:	n/a	n/a
2	POLR2A	chr6:33760683-33761302	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr6:33760345-33761238	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33760988-33761038	IMR90	lung:	fetal
2	chr6:33760988-33761038	GM19239	blood:	n/a
3	chr6:33760988-33761038	A549	lung:	n/a
4	chr6:33760988-33761038	AG10803	skin:	n/a
5	chr6:33760988-33761038	SK-N-SH	brain:	n/a
6	chr6:33760988-33761038	RPTEC	kidney:	n/a
7	chr6:33760988-33761038	ovcar-3	ovarian:	n/a
8	chr6:33760988-33761038	NB4	blood:	n/a
9	chr6:33760988-33761038	LNCaP	prostate:	n/a
10	chr6:33760988-33761038	Hepatocyte	liver:	n/a
11	chr6:33760988-33761038	ECC-1	luminal epithelium:	n/a
12	chr6:33760988-33761038	MCF-7	breast:	n/a
13	chr6:33760988-33761038	HMEC	breast:	n/a
14	chr6:33760988-33761038	BJ	skin:	n/a
15	chr6:33760988-33761038	HAEpiC	amniotic membrane:	n/a
16	chr6:33760988-33761038	H1-hESC	embryonic stem cell:	embryo
17	chr6:33760988-33761038	Jurkat	blood:	n/a
18	chr6:33760988-33761038	HRE	kidney:	n/a
19	chr6:33760988-33761038	NHBE	bronchial:	n/a
20	chr6:33760988-33761038	GM06990	blood:	n/a
21	chr6:33760988-33761038	NHDF-neo	bronchial:	n/a
22	chr6:33760988-33761038	HEEpiC	esophagus:	n/a
23	chr6:33760988-33761038	AoSMC	blood vessel:	n/a
24	chr6:33760988-33761038	SK-N-SH_RA	brain:	n/a
25	chr6:33760988-33761038	NT2-D1	testis:	n/a
26	chr6:33760988-33761038	HepG2	liver:	n/a
27	chr6:33760988-33761038	SK-N-MC	brain:	n/a
28	chr6:33760988-33761038	HCF	heart:	n/a
29	chr6:33760988-33761038	ProgFib	skin:	n/a
30	chr6:33760988-33761038	AG09319	gingival:	n/a
31	chr6:33760988-33761038	PrEC	prostate:	n/a
32	chr6:33760988-33761038	Hela-S3	cervix:	n/a
33	chr6:33760988-33761038	HRCEpiC	kidney:	n/a
34	chr6:33760988-33761038	NH-A	brain:	n/a
35	chr6:33760988-33761038	SAEC	small airway:	n/a
36	chr6:33760988-33761038	HNPCEpiC	eye:	n/a
37	chr6:33760988-33761038	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:33760988-33761038	HRPEpiC	eye:	n/a
39	chr6:33760988-33761038	AG04449	skin:	fetal
40	chr6:33760988-33761038	CMK	blood:	n/a
41	chr6:33760988-33761038	AG04450	lung:	fetal
42	chr6:33760988-33761038	GM12878	blood:	n/a
43	chr6:33760988-33761038	MCF10A-Er-Src	breast:	n/a
44	chr6:33760988-33761038	PANC-1	pancreas:	n/a
45	chr6:33760988-33761038	Caco-2	colon:	n/a
46	chr6:33760988-33761038	HIPEpiC	eye:	n/a
47	chr6:33760988-33761038	GM12891	blood:	n/a
48	chr6:33760988-33761038	AG09309	skin:	n/a
49	chr6:33760988-33761038	BE2_C	brain:	n/a
50	chr6:33760988-33761038	PFSK-1	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33754496..33759383-chr6:33759533..33763241,9	K562	blood:
2	chr6:33760052..33762868-chr6:33807891..33810024,2	MCF-7	breast:
3	chr6:33710782..33712479-chr6:33760281..33762991,2	MCF-7	breast:
4	chr6:33759898..33762472-chr6:33773491..33776525,3	K562	blood:
5	chr6:33750065..33752378-chr6:33760799..33763522,2	MCF-7	breast:
6	chr6:33760609..33762790-chr6:33764065..33767376,3	K562	blood:
7	chr6:33699067..33701380-chr6:33760767..33763233,2	MCF-7	breast:
8	chr6:33759914..33762466-chr6:33790813..33792897,2	MCF-7	breast:
9	chr6:33756053..33759472-chr6:33760488..33763867,4	MCF-7	breast:
10	chr6:33760837..33764079-chr6:33785814..33788727,4	MCF-7	breast:

No data

Variant related genes	Relation type
LEMD2	TF binding region
LEMD2	CpG island
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12173787	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12190029	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2013365	0.90[AFR][1000 genomes]
rs2281820	0.90[EUR][1000 genomes]
rs2296744	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2296746	0.81[AFR][1000 genomes]
rs2296747	0.93[AFR][1000 genomes]
rs2296748	0.81[AFR][1000 genomes]
rs2395402	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711347	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711348	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711349	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713678	0.81[EUR][1000 genomes]
rs4713679	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4713681	0.93[AFR][1000 genomes]
rs6457741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6929696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747694	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs751728	0.88[AFR][1000 genomes]
rs7774620	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380378	0.89[AFR][1000 genomes]
rs9394166	0.81[AFR][1000 genomes]
rs9394167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943471	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33757400-33761400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:33757600-33762400	Weak transcription	A549	lung
3	chr6:33757600-33763600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:33757600-33775800	Weak transcription	Right Atrium	heart
5	chr6:33758000-33762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:33758400-33763600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:33759000-33762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:33759000-33765600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:33759200-33763600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:33759400-33762200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:33759400-33762600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:33759400-33762600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:33759400-33762800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:33759600-33762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:33759800-33761600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr6:33760000-33762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:33760400-33761400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:33760400-33761600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:33760400-33763600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:33760400-33763600	Bivalent Enhancer	HepG2	liver
21	chr6:33760600-33763600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:33760800-33762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:33761000-33761200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr6:33761000-33761600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:33761000-33761800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:33761000-33762200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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