Variant report

Variant	rs140257203
Chromosome Location	chr6:44096281-44096282
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:44095956-44096801	K562	blood:	n/a	n/a
2	CTCF	chr6:44096272-44096367	MCF-7	breast:	n/a	n/a
3	CTCF	chr6:44096220-44096370	Caco-2	colon:	n/a	n/a
4	CTCF	chr6:44096200-44096350	NHLF	lung:	n/a	n/a
5	CTCF	chr6:44096220-44096370	GM12871	blood:	n/a	n/a
6	MAX	chr6:44094555-44096822	HepG2	liver:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
7	CTCF	chr6:44096267-44096380	GM12878	blood:	n/a	n/a
8	CTCF	chr6:44096146-44096419	K562	blood:	n/a	n/a
9	MAZ	chr6:44096141-44096376	GM12878	blood:	n/a	chr6:44096314-44096324
10	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
11	CTCF	chr6:44096240-44096390	GM12866	blood:	n/a	n/a
12	CTCF	chr6:44096277-44096393	ProgFib	skin:	n/a	n/a
13	CTCF	chr6:44096062-44096336	IMR90	lung:	n/a	n/a
14	CTCF	chr6:44096260-44096410	HRE	kidney:	n/a	n/a
15	CTCF	chr6:44096160-44096310	GM12864	blood:	n/a	n/a
16	CTCF	chr6:44096140-44096290	AG04450	lung:	n/a	n/a
17	CTCF	chr6:44096240-44096390	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr6:44096160-44096310	HRE	kidney:	n/a	n/a
19	CTCF	chr6:44096197-44096394	Fibrobl	skin:	n/a	n/a
20	MAX	chr6:44095659-44096308	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:44096200-44096350	AG09319	gingival:	n/a	n/a
22	SIN3A	chr6:44094343-44096576	H1-hESC	embryonic stem cell:	n/a	chr6:44095951-44095960 chr6:44095972-44095985
23	CTCF	chr6:44096240-44096390	GM12873	blood:	n/a	n/a
24	CTCF	chr6:44096260-44096410	GM12865	blood:	n/a	n/a
25	RAD21	chr6:44096202-44096391	HepG2	liver:	n/a	chr6:44096311-44096321 chr6:44096309-44096321
26	CTCF	chr6:44096220-44096370	AG04449	skin:	n/a	n/a
27	MAZ	chr6:44094352-44096578	K562	blood:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
28	CTCF	chr6:44096200-44096350	BE2_C	brain:	n/a	n/a
29	CTCF	chr6:44096228-44096431	HepG2	liver:	n/a	n/a
30	RUNX3	chr6:44095999-44096333	GM12878	blood:	n/a	n/a
31	MAX	chr6:44095691-44096679	K562	blood:	n/a	chr6:44096314-44096324
32	CTCF	chr6:44096280-44096430	GM12874	blood:	n/a	n/a
33	CTCF	chr6:44096200-44096350	RPTEC	kidney:	n/a	n/a
34	MAZ	chr6:44096106-44096456	Hela-S3	cervix:	n/a	chr6:44096314-44096324
35	CTCF	chr6:44096060-44096310	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr6:44096220-44096370	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr6:44096220-44096370	GM12864	blood:	n/a	n/a
38	CTCF	chr6:44096260-44096410	AG09319	gingival:	n/a	n/a
39	CTCF	chr6:44096240-44096390	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr6:44096180-44096330	GM06990	blood:	n/a	n/a
41	NR2F2	chr6:44095755-44096770	K562	blood:	n/a	n/a
42	CTCF	chr6:44096160-44096310	AG04450	lung:	n/a	n/a
43	CTCF	chr6:44096220-44096370	SAEC	small airway:	n/a	n/a
44	CTCF	chr6:44096220-44096370	HCM	heart:	n/a	n/a
45	HCFC1	chr6:44096148-44096409	K562	blood:	n/a	n/a
46	CTCF	chr6:44096259-44096372	GM19238	blood:	n/a	n/a
47	MAZ	chr6:44094009-44096852	IMR90	lung:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
48	CTCF	chr6:44096241-44096359	GM12892	blood:	n/a	n/a
49	POLR2A	chr6:44095988-44096322	K562	blood:	n/a	n/a
50	HMGN3	chr6:44094506-44096613	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
2	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
3	chr6:44055370..44058215-chr6:44094460..44096529,3	K562	blood:
4	chr6:44055370..44058215-chr6:44094927..44096529,2	K562	blood:
5	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
6	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
7	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
8	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
9	chr6:44042031..44044413-chr6:44095279..44097168,2	K562	blood:
10	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
11	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
12	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:
13	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

No data

Variant related genes	Relation type
MRPL14	TF binding region
ENSG00000124608	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000262179	Chromatin interaction
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS 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 lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3325720	chr6:44094199-44096747	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	esv3347288	chr6:44094599-44097147	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	16 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	chr6:44093800-44096400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44093800-44096400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:44094000-44096800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:44094000-44096800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:44094200-44096400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:44094200-44096400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:44094200-44096400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:44094200-44096400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:44094200-44096400	Active TSS	Small Intestine	intestine
10	chr6:44094200-44096400	Active TSS	NHDF-Ad	bronchial
11	chr6:44094200-44096800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:44094200-44096800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:44094200-44096800	Active TSS	Fetal Kidney	kidney
14	chr6:44094200-44096800	Active TSS	HSMM	muscle
15	chr6:44094400-44096400	Active TSS	Hela-S3	cervix
16	chr6:44094400-44096600	Active TSS	HSMMtube	muscle
17	chr6:44094400-44096800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:44094400-44096800	Active TSS	NHLF	lung
19	chr6:44094600-44096400	Active TSS	Aorta	Aorta
20	chr6:44094600-44096400	Active TSS	HepG2	liver
21	chr6:44095600-44096400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:44095600-44096400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:44095600-44096400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:44095600-44096600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr6:44095600-44096600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:44095600-44096800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr6:44095800-44096400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:44095800-44096400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:44095800-44096600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr6:44095800-44096600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr6:44095800-44096600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:44095800-44096600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr6:44095800-44096600	Flanking Active TSS	Dnd41	blood
34	chr6:44095800-44096800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:44095800-44096800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr6:44095800-44096800	Flanking Active TSS	Colonic Mucosa	Colon
37	chr6:44096000-44096400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr6:44096000-44096400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:44096000-44096400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr6:44096000-44096400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr6:44096000-44096400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:44096000-44096400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:44096000-44096400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:44096000-44096400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr6:44096000-44096400	Flanking Active TSS	Placenta	Placenta
46	chr6:44096000-44096400	Flanking Active TSS	Right Ventricle	heart
47	chr6:44096000-44096400	Flanking Active TSS	Spleen	Spleen
48	chr6:44096000-44096400	Flanking Active TSS	HUVEC	blood vessel
49	chr6:44096000-44096600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:44096000-44096600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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