Variant report

Variant	rs67585440
Chromosome Location	chr1:210534380-210534381
allele	A/G
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	CTCF	chr1:210534280-210534430	GM12869	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
2	CTCF	chr1:210534300-210534450	GM06990	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
3	RAD21	chr1:210533984-210534896	SK-N-SH	brain:	n/a	chr1:210534328-210534335 chr1:210534326-210534345
4	ZNF143	chr1:210534156-210534549	GM12878	blood:	n/a	n/a
5	CTCF	chr1:210534203-210534470	HepG2	liver:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
6	CTCF	chr1:210534280-210534430	AG09319	gingival:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
7	CTCF	chr1:210533977-210534547	IMR90	lung:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
8	CTCF	chr1:210534234-210534433	MCF-7	breast:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
9	CTCF	chr1:210534279-210534385	GM20000	blood:	n/a	chr1:210534330-210534338 chr1:210534325-210534343 chr1:210534327-210534348
10	CTCF	chr1:210534214-210534504	T-47D	breast:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
11	CTCF	chr1:210534274-210534398	NHEK	skin:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
12	CTCF	chr1:210534070-210534500	T-47D	breast:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
13	RAD21	chr1:210534117-210534610	A549	lung:	n/a	chr1:210534328-210534335 chr1:210534326-210534345
14	CTCF	chr1:210534240-210534390	WI-38	lung:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
15	CTCF	chr1:210534172-210534468	A549	lung:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
16	CTCF	chr1:210534280-210534430	HA-sp	spinal cord:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
17	CTCF	chr1:210534219-210534467	Medullo	brain:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
18	CTCF	chr1:210534300-210534450	HMEC	breast:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
19	CTCF	chr1:210534244-210534428	ProgFib	skin:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
20	CTCF	chr1:210534280-210534430	AoAF	blood vessel:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
21	CTCF	chr1:210534280-210534430	HPF	lung:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
22	CTCF	chr1:210534280-210534430	GM12872	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
23	CTCF	chr1:210534260-210534410	GM12864	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
24	MAX	chr1:210534276-210534506	NB4	blood:	n/a	n/a
25	CTCF	chr1:210534229-210534414	A549	lung:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
26	REST	chr1:210534124-210534549	A549	lung:	n/a	n/a
27	MYC	chr1:210534302-210534502	NB4	blood:	n/a	n/a
28	RAD21	chr1:210534210-210534595	MCF-7	breast:	n/a	chr1:210534328-210534335 chr1:210534326-210534345
29	CTCF	chr1:210534280-210534430	RPTEC	kidney:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
30	RAD21	chr1:210534057-210534600	HCT-116	colon:	n/a	chr1:210534328-210534335 chr1:210534326-210534345
31	CTCF	chr1:210534217-210534446	LNCaP	prostate:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
32	WRNIP1	chr1:210534297-210534480	GM12878	blood:	n/a	n/a
33	CTCF	chr1:210534240-210534390	GM12864	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
34	CTCF	chr1:210534229-210534454	Gliobla	brain:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
35	CTCF	chr1:210534300-210534450	GM12867	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
36	CTCF	chr1:210534225-210534447	Spleen_OC	spleen:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
37	CTCF	chr1:210534260-210534410	GM12878	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
38	MXI1	chr1:210534277-210534782	HepG2	liver:	n/a	n/a
39	REST	chr1:210534230-210534406	SK-N-SH	brain:	n/a	n/a
40	RAD21	chr1:210534143-210534546	IMR90	lung:	n/a	chr1:210534328-210534335 chr1:210534326-210534345
41	RUNX3	chr1:210534220-210534481	GM12878	blood:	n/a	n/a
42	RAD21	chr1:210534228-210534536	MCF-7	breast:	n/a	chr1:210534328-210534335 chr1:210534326-210534345
43	CTCF	chr1:210534260-210534410	AG10803	skin:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
44	CTCF	chr1:210534280-210534430	NHDF-neo	bronchial:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
45	YY1	chr1:210534203-210534469	SK-N-SH_RA	brain:	n/a	n/a
46	YY1	chr1:210534218-210534486	GM12878	blood:	n/a	n/a
47	RAD21	chr1:210534210-210534478	H1-hESC	embryonic stem cell:	n/a	chr1:210534328-210534335 chr1:210534326-210534345
48	CTCF	chr1:210534320-210534470	GM12870	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
49	CTCF	chr1:210534217-210534496	K562	blood:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343
50	CTCF	chr1:210534166-210534632	HCT-116	colon:	n/a	chr1:210534330-210534338 chr1:210534327-210534348 chr1:210534325-210534343

No.	Distal block	Cell Line	Cell type
1	chr1:210529252..210531698-chr1:210532960..210535588,2	MCF-7	breast:
2	chr1:210533834..210534624-chr1:210547790..210548293,2	MCF-7	breast:
3	chr1:210533956..210534790-chr1:210573565..210574523,4	MCF-7	breast:
4	chr1:210316285..210317489-chr1:210533856..210534705,3	MCF-7	breast:
5	chr1:210533938..210534795-chr1:210546805..210547324,2	MCF-7	breast:
6	chr1:210533808..210534781-chr1:210574075..210574592,2	K562	blood:
7	chr1:210483500..210486425-chr1:210532842..210535734,2	MCF-7	breast:

Variant related genes	Relation type
HHAT	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10863823	0.84[EUR][1000 genomes]
rs11119469	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119470	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119479	0.81[EUR][1000 genomes]
rs11581098	0.85[EUR][1000 genomes]
rs12093502	0.85[EUR][1000 genomes]
rs12119456	0.81[EUR][1000 genomes]
rs12125066	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12138565	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12141729	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143617	0.86[EUR][1000 genomes]
rs34326582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34655906	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34664826	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35295119	1.00[ASN][1000 genomes]
rs35714200	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36111632	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745429	0.90[AMR][1000 genomes];0.97[EUR][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	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:210513000-210540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210516800-210534400	Weak transcription	Fetal Lung	lung
4	chr1:210517000-210534400	Weak transcription	HSMM	muscle
5	chr1:210517200-210534400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210517200-210534400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:210517200-210534600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:210517200-210535800	Weak transcription	Right Ventricle	heart
9	chr1:210517200-210536000	Weak transcription	Fetal Stomach	stomach
10	chr1:210517200-210536000	Weak transcription	Left Ventricle	heart
11	chr1:210517400-210534400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:210517600-210536000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:210518600-210534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:210521000-210534400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:210521200-210534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:210521400-210534400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:210522600-210537600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:210523000-210534400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:210525200-210538000	Weak transcription	Ovary	ovary
20	chr1:210526000-210534400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:210526200-210534600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:210527800-210534600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:210528400-210536600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:210529400-210534400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
26	chr1:210532000-210534400	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:210532200-210534600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:210532400-210534400	Weak transcription	Fetal Heart	heart
29	chr1:210532400-210540200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:210532400-210545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:210532600-210534400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:210532600-210534400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:210532600-210534400	Weak transcription	Stomach Mucosa	stomach
34	chr1:210532600-210540200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:210532800-210534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:210532800-210534400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:210532800-210534400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:210533000-210534400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:210533000-210534400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:210533000-210534400	Weak transcription	HSMMtube	muscle
41	chr1:210533200-210534400	Weak transcription	Liver	Liver
42	chr1:210533200-210537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:210533200-210540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:210533400-210534400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:210534200-210534400	Enhancers	HepG2	liver
46	chr1:210534200-210534800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:210534200-210535400	Enhancers	HMEC	breast
48	chr1:210534200-210536800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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