Variant report

Variant	rs4714749
Chromosome Location	chr6:44093322-44093323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr6:44093292-44093688	K562	blood:	n/a	n/a
2	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
3	POLR2A	chr6:44093234-44093350	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
2	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
3	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
4	chr6:44042539..44044412-chr6:44091796..44094551,2	K562	blood:
5	chr6:43596367..43598855-chr6:44092530..44095404,4	K562	blood:
6	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
7	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

No data

Variant related genes	Relation type
TMEM63B	TF binding region
ENSG00000112759	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000124688	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428726	0.96[ASN][1000 genomes]
rs10807295	0.96[ASN][1000 genomes]
rs10948122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948123	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948125	0.96[ASN][1000 genomes]
rs10948126	0.96[ASN][1000 genomes]
rs11966587	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967633	0.96[ASN][1000 genomes]
rs11968386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525049	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12526662	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096200	0.96[ASN][1000 genomes]
rs35738079	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs41282654	0.93[ASN][1000 genomes]
rs4711765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59028814	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60245793	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691447	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912142	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs700006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73733834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738970	0.96[ASN][1000 genomes]
rs7771710	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44081800-44093600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:44082200-44093600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:44083200-44093800	Weak transcription	Fetal Brain Male	brain
5	chr6:44083800-44093800	Enhancers	Stomach Mucosa	stomach
6	chr6:44084000-44093800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:44085800-44093800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:44087000-44093600	Enhancers	Liver	Liver
9	chr6:44087200-44093600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr6:44087400-44093800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:44087400-44094200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:44087800-44093800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:44087800-44094000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:44088000-44093400	Weak transcription	Brain Angular Gyrus	brain
15	chr6:44088000-44094000	Weak transcription	Aorta	Aorta
16	chr6:44088000-44094000	Weak transcription	Esophagus	oesophagus
17	chr6:44088600-44094000	Enhancers	Adipose Nuclei	Adipose
18	chr6:44089200-44093800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:44089400-44093800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:44089600-44093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:44089600-44094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:44090000-44093800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:44090000-44093800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:44090200-44093600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:44090400-44093800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:44090400-44094000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr6:44090400-44094000	Enhancers	Thymus	Thymus
28	chr6:44090400-44094200	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:44090600-44093600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:44090600-44093600	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:44090600-44094200	Enhancers	Small Intestine	intestine
32	chr6:44090800-44093600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:44090800-44093600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:44090800-44093800	Enhancers	Colonic Mucosa	Colon
35	chr6:44091000-44093600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:44091000-44093800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
37	chr6:44091000-44094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:44091200-44093400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:44091200-44093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:44091200-44093600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:44091200-44093600	Genic enhancers	Fetal Intestine Small	intestine
42	chr6:44091200-44093600	Enhancers	HUVEC	blood vessel
43	chr6:44091200-44093800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:44091200-44094000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:44091400-44093600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:44091400-44093600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:44091400-44093600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:44091400-44093600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:44091400-44093600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:44091400-44093800	Enhancers	Fetal Heart	heart

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