Variant report

Variant	rs7237512
Chromosome Location	chr18:8609121-8609122
allele	C/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	NFIC	chr18:8608434-8609422	GM12878	blood:	n/a	n/a
2	GABPA	chr18:8609085-8609603	SK-N-SH	brain:	n/a	chr18:8609303-8609312
3	TBL1XR1	chr18:8608977-8609531	GM12878	blood:	n/a	n/a
4	BCLAF1	chr18:8608704-8609625	GM12878	blood:	n/a	chr18:8608905-8608918 chr18:8608904-8608917 chr18:8609541-8609554 chr18:8609577-8609590 chr18:8608901-8608914
5	BHLHE40	chr18:8608753-8609490	K562	blood:	n/a	n/a
6	NRF1	chr18:8608855-8609592	GM12878	blood:	n/a	chr18:8608957-8608966 chr18:8609404-8609415 chr18:8609303-8609312
7	POLR2A	chr18:8608687-8610750	GM18505	blood:	n/a	n/a
8	POU2F2	chr18:8608656-8609132	GM12878	blood:	n/a	n/a
9	MAZ	chr18:8608806-8609593	GM12878	blood:	n/a	n/a
10	CTCF	chr18:8609100-8609250	HVMF	connective:	n/a	n/a
11	POLR2A	chr18:8607649-8612572	GM12878	blood:	n/a	n/a
12	MAZ	chr18:8608695-8609582	HepG2	liver:	n/a	n/a
13	MAX	chr18:8608709-8609175	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYBL2	chr18:8609085-8609523	HepG2	liver:	n/a	n/a
15	MAX	chr18:8608712-8609637	HepG2	liver:	n/a	n/a
16	CTCF	chr18:8609100-8609250	HCT-116	colon:	n/a	n/a
17	MAX	chr18:8608781-8609278	H1-hESC	embryonic stem cell:	n/a	n/a
18	HMGN3	chr18:8608773-8610491	K562	blood:	n/a	n/a
19	CTCF	chr18:8609020-8609170	HAc	cerebellar:	n/a	n/a
20	POLR2A	chr18:8609031-8609344	HepG2	liver:	n/a	n/a
21	POLR2A	chr18:8608820-8609596	HepG2	liver:	n/a	n/a
22	CTBP2	chr18:8608780-8609413	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr18:8607448-8612964	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr18:8608962-8609460	K562	blood:	n/a	n/a
25	MYC	chr18:8609097-8610039	K562	blood:	n/a	n/a
26	RAD21	chr18:8609080-8609619	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr18:8608800-8609525	H1-hESC	embryonic stem cell:	n/a	n/a
28	RUNX3	chr18:8608606-8609608	GM12878	blood:	n/a	n/a
29	POLR2A	chr18:8609003-8609561	SK-N-MC	brain:	n/a	n/a
30	EGR1	chr18:8609093-8609492	ECC-1	luminal epithelium:	n/a	chr18:8609247-8609257 chr18:8609247-8609256 chr18:8609244-8609257 chr18:8609244-8609257 chr18:8609245-8609256 chr18:8609244-8609257 chr18:8609246-8609256 chr18:8609244-8609258 chr18:8609244-8609257
31	GABPA	chr18:8609119-8609690	HL-60	blood:	n/a	chr18:8609303-8609312 chr18:8609625-8609634
32	HCFC1	chr18:8609109-8610723	K562	blood:	n/a	n/a
33	GABPA	chr18:8609107-8609638	K562	blood:	n/a	chr18:8609303-8609312 chr18:8609625-8609634
34	EP300	chr18:8608903-8609461	GM12878	blood:	n/a	chr18:8609190-8609204
35	WRNIP1	chr18:8608997-8609437	GM12878	blood:	n/a	n/a
36	PAX5	chr18:8609110-8609586	GM12892	blood:	n/a	n/a
37	POLR2A	chr18:8608584-8609612	GM12891	blood:	n/a	n/a
38	GTF2F1	chr18:8609045-8609587	H1-hESC	embryonic stem cell:	n/a	n/a
39	SETDB1	chr18:8608739-8609507	K562	blood:	n/a	n/a
40	MAX	chr18:8609090-8609579	A549	lung:	n/a	n/a
41	MAX	chr18:8609090-8609552	A549	lung:	n/a	n/a
42	SPI1	chr18:8609025-8609587	HL-60	blood:	n/a	chr18:8609188-8609201 chr18:8609205-8609212 chr18:8609509-8609522
43	ELF1	chr18:8609068-8609670	K562	blood:	n/a	chr18:8609202-8609213 chr18:8609606-8609618 chr18:8609545-8609554
44	TCF7L2	chr18:8609002-8609591	HCT-116	colon:	n/a	chr18:8609213-8609227 chr18:8609214-8609228
45	MTA3	chr18:8608734-8609156	GM12878	blood:	n/a	n/a
46	POLR2A	chr18:8608438-8610733	GM12892	blood:	n/a	n/a
47	ZMIZ1	chr18:8609082-8609571	K562	blood:	n/a	n/a
48	POLR2A	chr18:8608209-8610803	GM12892	blood:	n/a	n/a
49	CTCF	chr18:8608980-8609130	NHDF-neo	bronchial:	n/a	n/a
50	POLR2A	chr18:8609042-8609530	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:8608610..8610450-chr18:8634759..8636817,2	MCF-7	breast:
2	chr18:8480253..8481026-chr18:8608870..8609384,2	MCF-7	breast:
3	chr18:8608384..8610361-chr18:9333343..9335226,2	K562	blood:
4	chr18:8608734..8611272-chr18:9134054..9137046,2	K562	blood:

Variant related genes	Relation type
RAB12	TF binding region
ENSG00000266708	Chromatin interaction
ENSG00000264964	Chromatin interaction
ENSG00000128791	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1250161	0.96[ASN][1000 genomes]
rs321654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs321663	1.00[JPT][hapmap]
rs399600	1.00[JPT][hapmap]
rs55906430	0.96[ASN][1000 genomes]
rs72936887	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3405917	chr18:8608702-8611000	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8607800-8610000	Active TSS	HepG2	liver
2	chr18:8608000-8609200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr18:8608000-8609200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr18:8608000-8609200	Flanking Active TSS	HSMM	muscle
5	chr18:8608000-8609800	Active TSS	Colonic Mucosa	Colon
6	chr18:8608000-8610000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:8608200-8609200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr18:8608200-8609200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr18:8608200-8609200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr18:8608200-8610600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr18:8608200-8611000	Active TSS	NHDF-Ad	bronchial
12	chr18:8608200-8611400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr18:8608200-8611400	Active TSS	Ovary	ovary
14	chr18:8608400-8609200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr18:8608400-8609200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr18:8608400-8609200	Flanking Active TSS	Liver	Liver
17	chr18:8608400-8609200	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr18:8608400-8609200	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr18:8608400-8609200	Flanking Active TSS	HSMMtube	muscle
20	chr18:8608400-8610400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:8608400-8610400	Active TSS	Brain Hippocampus Middle	brain
22	chr18:8608400-8610400	Active TSS	Fetal Lung	lung
23	chr18:8608400-8610400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr18:8608400-8611000	Active TSS	Colon Smooth Muscle	Colon
25	chr18:8608400-8611400	Active TSS	Right Atrium	heart
26	chr18:8608400-8611600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr18:8608600-8609200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:8608600-8609200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr18:8608600-8609200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr18:8608600-8609200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr18:8608600-8609200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
32	chr18:8608600-8609200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr18:8608600-8609200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr18:8608600-8609200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:8608600-8609200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr18:8608600-8609200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:8608600-8609200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr18:8608600-8609200	Flanking Active TSS	Fetal Brain Male	brain
39	chr18:8608600-8609200	Flanking Active TSS	Fetal Thymus	thymus
40	chr18:8608600-8609200	Bivalent/Poised TSS	Stomach Mucosa	stomach
41	chr18:8608600-8609200	Flanking Active TSS	HMEC	breast
42	chr18:8608600-8609200	Flanking Active TSS	HUVEC	blood vessel
43	chr18:8608600-8609200	Flanking Active TSS	NH-A	brain
44	chr18:8608600-8610000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr18:8608600-8610400	Active TSS	Brain Cingulate Gyrus	brain
46	chr18:8608600-8610400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr18:8608600-8610600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:8608600-8610600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:8608600-8610600	Active TSS	Brain Substantia Nigra	brain
50	chr18:8608600-8610600	Active TSS	Fetal Kidney	kidney

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