Variant report

Variant	rs2021722
Chromosome Location	chr6:30174131-30174132
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:30174000-30174150	GM12873	blood:	n/a	n/a
2	POLR2A	chr6:30173680-30174417	GM12878	blood:	n/a	n/a
3	CTCF	chr6:30173979-30174131	Fibrobl	skin:	n/a	n/a
4	POLR2A	chr6:30173896-30174191	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:30173958-30174138	GM12878	blood:	n/a	n/a
6	PAX5	chr6:30173839-30174270	GM12878	blood:	n/a	chr6:30174101-30174119
7	RUNX3	chr6:30173917-30174341	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:30173977-30174293	GM12891	blood:	n/a	n/a
9	EBF1	chr6:30173906-30174330	GM12878	blood:	n/a	chr6:30174059-30174070
10	CTCF	chr6:30174040-30174190	HCFaa	heart:	n/a	n/a
11	POLR2A	chr6:30173961-30174182	GM12878	blood:	n/a	n/a
12	RUNX3	chr6:30173930-30174381	GM12878	blood:	n/a	n/a
13	CTCF	chr6:30174000-30174150	HepG2	liver:	n/a	n/a
14	PAX5	chr6:30173999-30174189	GM12878	blood:	n/a	chr6:30174101-30174119
15	PAX5	chr6:30173905-30174238	GM12878	blood:	n/a	chr6:30174101-30174119
16	EBF1	chr6:30173978-30174295	GM12878	blood:	n/a	chr6:30174059-30174070
17	POLR2A	chr6:30173861-30174160	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:30173792-30174358	GM12892	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30174125-30174175	HMEC	breast:	n/a
2	chr6:30174125-30174175	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:30174091-30174141	T-47D	breast:	n/a
4	chr6:30174125-30174175	HCT-116	colon:	n/a
5	chr6:30174091-30174141	HCF	heart:	n/a
6	chr6:30174091-30174141	HL-60	blood:	n/a
7	chr6:30174091-30174141	Hepatocyte	liver:	n/a
8	chr6:30174131-30174181	HepG2	liver:	n/a
9	chr6:30174125-30174175	CMK	blood:	n/a
10	chr6:30174091-30174141	HEEpiC	esophagus:	n/a
11	chr6:30174091-30174141	HRE	kidney:	n/a
12	chr6:30174125-30174175	LNCaP	prostate:	n/a
13	chr6:30174091-30174141	U87	brain:	n/a
14	chr6:30174131-30174181	NHBE	bronchial:	n/a
15	chr6:30174131-30174181	HNPCEpiC	eye:	n/a
16	chr6:30174131-30174181	PANC-1	pancreas:	n/a
17	chr6:30174091-30174141	NT2-D1	testis:	n/a
18	chr6:30174125-30174175	Hepatocyte	liver:	n/a
19	chr6:30174091-30174141	HMEC	breast:	n/a
20	chr6:30174131-30174181	CMK	blood:	n/a
21	chr6:30174091-30174141	HRPEpiC	eye:	n/a
22	chr6:30174131-30174181	AG04449	skin:	fetal
23	chr6:30174131-30174181	BJ	skin:	n/a
24	chr6:30174131-30174181	HIPEpiC	eye:	n/a
25	chr6:30174125-30174175	PANC-1	pancreas:	n/a
26	chr6:30174131-30174181	SK-N-SH	brain:	n/a
27	chr6:30174125-30174175	T-47D	breast:	n/a
28	chr6:30174131-30174181	NT2-D1	testis:	n/a
29	chr6:30174131-30174181	GM12891	blood:	n/a
30	chr6:30174125-30174175	NHDF-neo	bronchial:	n/a
31	chr6:30174125-30174175	HUVEC	blood vessel:	n/a
32	chr6:30174091-30174141	HIPEpiC	eye:	n/a
33	chr6:30174091-30174141	NHDF-neo	bronchial:	n/a
34	chr6:30174131-30174181	Hela-S3	cervix:	n/a
35	chr6:30174091-30174141	AG04450	lung:	fetal
36	chr6:30174125-30174175	AG10803	skin:	n/a
37	chr6:30174091-30174141	HEK293	kidney:	embryo
38	chr6:30174131-30174181	AG10803	skin:	n/a
39	chr6:30174125-30174175	H1-hESC	embryonic stem cell:	embryo
40	chr6:30174091-30174141	Hela-S3	cervix:	n/a
41	chr6:30174131-30174181	HRPEpiC	eye:	n/a
42	chr6:30174131-30174181	SK-N-MC	brain:	n/a
43	chr6:30174131-30174181	Caco-2	colon:	n/a
44	chr6:30174091-30174141	AG09309	skin:	n/a
45	chr6:30174131-30174181	HCF	heart:	n/a
46	chr6:30174125-30174175	SK-N-SH_RA	brain:	n/a
47	chr6:30174125-30174175	HepG2	liver:	n/a
48	chr6:30174125-30174175	ProgFib	skin:	n/a
49	chr6:30174131-30174181	HRCEpiC	kidney:	n/a
50	chr6:30174125-30174175	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30170611..30172995-chr6:30173743..30176690,2	MCF-7	breast:
2	chr6:30172695..30175243-chr6:30183856..30185988,2	K562	blood:

No data

Variant related genes	Relation type
TRIM26	TF binding region
TRIM26	CpG island
ENSG00000234127	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1117487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1117490	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969573	0.81[ASN][1000 genomes]
rs2023475	0.81[ASN][1000 genomes]
rs2284166	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428503	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2517590	0.81[ASN][1000 genomes]
rs2517608	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517610	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517611	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2517614	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2523713	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523716	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523721	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523722	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28360014	0.81[ASN][1000 genomes]
rs2844776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132672	0.81[AFR][1000 genomes]
rs55957413	0.81[ASN][1000 genomes]
rs59975149	0.81[ASN][1000 genomes]
rs61154150	0.81[ASN][1000 genomes]
rs885912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971570	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant related diseases (count:2)

Disease	PMID	Source
Schizophrenia	21926974	GWAS catalog
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	23453885	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2021722	ZKSCAN3	cis	parietal	SCAN
rs2021722	BTN2A1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30150600-30179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:30156800-30174600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:30158400-30179600	Weak transcription	Fetal Brain Male	brain
4	chr6:30167000-30178000	Weak transcription	Fetal Brain Female	brain
5	chr6:30168800-30174800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:30168800-30179800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:30169000-30174200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:30169000-30174400	Weak transcription	Fetal Kidney	kidney
9	chr6:30169000-30174600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:30169000-30174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:30169000-30174600	Weak transcription	Colonic Mucosa	Colon
12	chr6:30169000-30174600	Weak transcription	Fetal Lung	lung
13	chr6:30169000-30174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:30169000-30175000	Weak transcription	Ovary	ovary
15	chr6:30169000-30175000	Weak transcription	HUVEC	blood vessel
16	chr6:30169000-30175200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:30169000-30175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:30169000-30179800	Weak transcription	Aorta	Aorta
19	chr6:30169400-30174200	Enhancers	Liver	Liver
20	chr6:30169400-30175200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:30170000-30174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:30170200-30174400	Weak transcription	HSMMtube	muscle
23	chr6:30170200-30175000	Strong transcription	Fetal Stomach	stomach
24	chr6:30170200-30179200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:30170400-30174600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:30170400-30174600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:30170400-30174600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:30170400-30174600	Weak transcription	Placenta	Placenta
29	chr6:30170400-30174600	Weak transcription	Small Intestine	intestine
30	chr6:30170400-30174600	Weak transcription	Spleen	Spleen
31	chr6:30170400-30175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:30170600-30174600	Weak transcription	Fetal Thymus	thymus
33	chr6:30170600-30174800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:30170600-30179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:30171600-30174400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:30171600-30176200	Strong transcription	Primary T cells from cord blood	blood
37	chr6:30171800-30174400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:30172000-30174800	Genic enhancers	Fetal Intestine Small	intestine
39	chr6:30172000-30176000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:30172200-30174600	Weak transcription	Brain Substantia Nigra	brain
41	chr6:30172200-30174800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:30172400-30174400	Weak transcription	Brain Anterior Caudate	brain
43	chr6:30172400-30174400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:30172400-30174400	Weak transcription	NHEK	skin
45	chr6:30172400-30174600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:30172400-30174600	Weak transcription	HSMM	muscle
47	chr6:30172400-30174600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:30172400-30174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:30172400-30174800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:30172400-30175000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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