Variant report

Variant	rs1122598
Chromosome Location	chr7:99699436-99699437
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	MAZ	chr7:99698913-99699708	HepG2	liver:	n/a	chr7:99699037-99699048 chr7:99699038-99699047 chr7:99699036-99699045
2	HEY1	chr7:99697723-99699845	K562	blood:	n/a	n/a
3	PML	chr7:99699417-99699580	GM12878	blood:	n/a	n/a
4	TBP	chr7:99698123-99699770	K562	blood:	n/a	n/a
5	IRF1	chr7:99698853-99699584	K562	blood:	n/a	n/a
6	IRF1	chr7:99698817-99699641	K562	blood:	n/a	n/a
7	CEBPB	chr7:99698822-99699484	K562	blood:	n/a	chr7:99699339-99699350 chr7:99699109-99699117
8	CCNT2	chr7:99698136-99699716	K562	blood:	n/a	chr7:99698643-99698652
9	POLR2A	chr7:99697924-99699712	GM12878	blood:	n/a	n/a
10	MYC	chr7:99698804-99699578	K562	blood:	n/a	chr7:99699037-99699048 chr7:99699038-99699047 chr7:99699036-99699045
11	POLR2A	chr7:99697920-99699673	GM12891	blood:	n/a	n/a
12	POLR2A	chr7:99694417-99699772	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr7:99699400-99699679	K562	blood:	n/a	n/a
14	POLR2A	chr7:99698138-99699720	K562	blood:	n/a	n/a
15	CHD2	chr7:99697890-99699623	GM12878	blood:	n/a	chr7:99698390-99698400
16	MYC	chr7:99697990-99699667	K562	blood:	n/a	chr7:99699037-99699048 chr7:99699038-99699047 chr7:99698505-99698515 chr7:99699036-99699045
17	E2F6	chr7:99699432-99699731	K562	blood:	n/a	n/a
18	GABPA	chr7:99698932-99699772	HL-60	blood:	n/a	chr7:99699221-99699230
19	POLR2A	chr7:99697846-99699795	H1-hESC	embryonic stem cell:	n/a	n/a
20	EP300	chr7:99698824-99699563	K562	blood:	n/a	n/a
21	RELA	chr7:99697882-99699593	GM19193	blood:	n/a	n/a
22	RCOR1	chr7:99698691-99699642	Hela-S3	cervix:	n/a	n/a
23	MAX	chr7:99698061-99699735	Hela-S3	cervix:	n/a	chr7:99699037-99699048 chr7:99699038-99699047 chr7:99698505-99698515 chr7:99699036-99699045
24	MXI1	chr7:99698885-99699738	H1-hESC	embryonic stem cell:	n/a	chr7:99699039-99699048
25	ELK1	chr7:99698841-99699698	Hela-S3	cervix:	n/a	n/a
26	MAX	chr7:99697838-99699753	ECC-1	luminal epithelium:	n/a	chr7:99699037-99699048 chr7:99699038-99699047 chr7:99698505-99698515 chr7:99699036-99699045
27	POLR2A	chr7:99699393-99699630	HepG2	liver:	n/a	n/a
28	TAF1	chr7:99699421-99699708	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr7:99699387-99699636	PFSK-1	brain:	n/a	n/a
30	ELK1	chr7:99698872-99699692	K562	blood:	n/a	n/a
31	BHLHE40	chr7:99698148-99699738	K562	blood:	n/a	chr7:99699036-99699049
32	POLR2A	chr7:99697969-99699757	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:99697867-99699882	GM12892	blood:	n/a	n/a
34	MAX	chr7:99697858-99699799	SK-N-SH	brain:	n/a	chr7:99699037-99699048 chr7:99699038-99699047 chr7:99698505-99698515 chr7:99699036-99699045
35	ZNF384	chr7:99698810-99700320	K562	blood:	n/a	n/a
36	POLR2A	chr7:99698165-99699678	K562	blood:	n/a	n/a
37	CEBPB	chr7:99699164-99699507	A549	lung:	n/a	chr7:99699339-99699350
38	POLR2A	chr7:99697747-99699738	GM12878	blood:	n/a	n/a
39	CREB1	chr7:99697882-99699907	HepG2	liver:	n/a	n/a
40	EP300	chr7:99698991-99699638	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr7:99699421-99699671	GM12892	blood:	n/a	n/a
42	POLR2A	chr7:99699384-99699773	A549	lung:	n/a	n/a
43	ELF1	chr7:99698855-99699736	K562	blood:	n/a	n/a
44	MAZ	chr7:99698823-99699763	Hela-S3	cervix:	n/a	chr7:99699037-99699048 chr7:99699038-99699047 chr7:99699036-99699045
45	POLR2A	chr7:99697963-99699667	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:99697762-99700065	H1-hESC	embryonic stem cell:	n/a	n/a
47	HCFC1	chr7:99698797-99699707	K562	blood:	n/a	n/a
48	SIN3AK20	chr7:99699060-99699797	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:99698808-99699731	Gliobla	brain:	n/a	n/a
50	IRF1	chr7:99698821-99699654	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99696160..99700887-chr7:99753963..99757907,5	K562	blood:
2	chr7:99516652..99519200-chr7:99698709..99701368,2	MCF-7	breast:
3	chr7:99697399..99699503-chr7:99751252..99753483,2	MCF-7	breast:
4	chr19:17516475..17517447-chr7:99698965..99699567,2	Hela-S3	cervix:
5	chr7:99612390..99616211-chr7:99697108..99699457,4	K562	blood:
6	chr7:99699304..99700877-chr7:99754815..99757179,2	K562	blood:
7	chr7:99645952..99651427-chr7:99695296..99699701,5	K562	blood:
8	chr7:99696789..99700792-chr7:100024893..100031468,10	K562	blood:
9	chr7:99697112..99700279-chr7:100024243..100028129,6	MCF-7	breast:
10	chr7:99588575..99590179-chr7:99697467..99700310,2	K562	blood:
11	chr7:99036383..99037983-chr7:99697616..99700262,2	MCF-7	breast:
12	chr7:99576315..99578805-chr7:99697574..99699659,2	MCF-7	breast:
13	chr19:16682658..16683418-chr7:99698527..99699537,3	Hela-S3	cervix:
14	chr1:155196797..155197673-chr7:99698835..99699797,2	Hela-S3	cervix:
15	chr7:99697813..99699530-chr7:99754761..99757399,3	MCF-7	breast:
16	chr16:69165985..69166518-chr7:99698570..99699469,2	Hela-S3	cervix:
17	chr14:102430111..102432815-chr7:99697552..99699844,2	MCF-7	breast:
18	chr7:99697347..99700775-chr7:100198565..100202321,3	MCF-7	breast:
19	chr7:99697080..99699701-chr7:100805624..100808540,2	MCF-7	breast:
20	chr7:99697950..99701090-chr7:99746543..99749524,3	MCF-7	breast:
21	chr7:99516652..99519879-chr7:99696878..99699951,3	MCF-7	breast:
22	chr7:99646207..99647783-chr7:99696961..99699503,2	MCF-7	breast:
23	chr7:99697437..99703178-chr7:100024624..100029482,10	K562	blood:
24	chr7:99005493..99007248-chr7:99698114..99700010,2	MCF-7	breast:
25	chr7:99612390..99617445-chr7:99697108..99699685,5	K562	blood:
26	chr7:99696898..99700086-chr7:99750657..99754674,4	MCF-7	breast:
27	chr7:99061682..99064704-chr7:99696557..99699487,3	K562	blood:
28	chr16:2255229..2255919-chr7:99699269..99699893,2	Hela-S3	cervix:
29	chr7:99699099..99699782-chr7:99716678..99717340,2	Hela-S3	cervix:
30	chr7:99696142..99700081-chr7:99754300..99760427,7	MCF-7	breast:
31	chr7:99588477..99590075-chr7:99697467..99699544,2	K562	blood:
32	chr17:61698893..61701536-chr7:99697236..99699557,2	MCF-7	breast:

Variant related genes	Relation type
MCM7	TF binding region
AP4M1	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000168802	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000235713	Chromatin interaction
ENSG00000141971	Chromatin interaction
ENSG00000198909	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000197102	Chromatin interaction
ENSG00000167965	Chromatin interaction
ENSG00000141076	Chromatin interaction
ENSG00000127526	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000269640	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000214313	Chromatin interaction
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12267	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2261360	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4729575	0.80[ASN][1000 genomes]
rs72615157	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1122598	PILRA,PILRB	cis	brain	BrainEAC
rs1122598	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs1122598	PILRA,PILRB	cis	temporal cortex	BrainEAC
rs1122598	PILRA,PILRB	cis	cerebellar cortex	BrainEAC
rs1122598	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs1122598	PILRB	cis	Nerve Tibial	GTEx
rs1122598	STAG3	Cis_1M	lymphoblastoid	RTeQTL
rs1122598	TRIM4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99697200-99700200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:99697400-99700200	Active TSS	Ovary	ovary
3	chr7:99697600-99699600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:99697600-99699600	Active TSS	Colonic Mucosa	Colon
5	chr7:99697600-99699800	Active TSS	Fetal Brain Male	brain
6	chr7:99697600-99699800	Active TSS	Spleen	Spleen
7	chr7:99697600-99700000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:99697600-99700000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:99697600-99700000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:99697600-99700000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:99697600-99700000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:99697600-99700000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:99697600-99700000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:99697600-99700000	Active TSS	Aorta	Aorta
15	chr7:99697600-99700000	Active TSS	Esophagus	oesophagus
16	chr7:99697600-99700000	Active TSS	Fetal Brain Female	brain
17	chr7:99697600-99700000	Active TSS	Fetal Intestine Large	intestine
18	chr7:99697600-99700000	Active TSS	Gastric	stomach
19	chr7:99697600-99700000	Active TSS	Left Ventricle	heart
20	chr7:99697600-99700000	Active TSS	Lung	lung
21	chr7:99697600-99700000	Active TSS	Placenta Amnion	Placenta Amnion
22	chr7:99697600-99700000	Active TSS	Psoas Muscle	Psoas
23	chr7:99697600-99700000	Active TSS	Right Ventricle	heart
24	chr7:99697600-99700000	Active TSS	Thymus	Thymus
25	chr7:99697600-99700000	Active TSS	GM12878-XiMat	blood
26	chr7:99697600-99700000	Active TSS	HSMMtube	muscle
27	chr7:99697600-99700000	Active TSS	NHDF-Ad	bronchial
28	chr7:99697600-99700200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr7:99697600-99700200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:99697600-99700200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:99697600-99700200	Active TSS	HSMM	muscle
32	chr7:99697600-99700400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:99697600-99700400	Active TSS	Fetal Kidney	kidney
34	chr7:99697600-99700600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:99697800-99699600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:99697800-99699600	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr7:99697800-99699600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:99697800-99699800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:99697800-99699800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:99697800-99699800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:99697800-99699800	Active TSS	Brain Hippocampus Middle	brain
42	chr7:99697800-99699800	Active TSS	Fetal Intestine Small	intestine
43	chr7:99697800-99700000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:99697800-99700000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr7:99697800-99700000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:99697800-99700000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:99697800-99700000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:99697800-99700000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:99697800-99700000	Active TSS	Primary T cells from cord blood	blood
50	chr7:99697800-99700000	Active TSS	Primary T killer memory cells from peripheral blood	blood

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