Variant report

Variant	rs1403782
Chromosome Location	chr7:6516784-6516785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
2	chr7:6497678..6499764-chr7:6515399..6517836,2	K562	blood:
3	chr7:6515936..6521284-chr7:6521487..6524392,7	MCF-7	breast:
4	chr7:6487637..6489656-chr7:6514192..6516850,2	MCF-7	breast:
5	chr7:6515446..6517619-chr7:6541586..6543669,2	MCF-7	breast:
6	chr7:6505053..6507706-chr7:6514500..6517460,3	K562	blood:
7	chr7:6510413..6513811-chr7:6516009..6519454,4	MCF-7	breast:
8	chr7:6486127..6488244-chr7:6514542..6517106,2	K562	blood:
9	chr7:6499717..6507603-chr7:6511410..6517764,12	K562	blood:
10	chr7:6480573..6483182-chr7:6515593..6518395,2	K562	blood:
11	chr7:6402943..6405122-chr7:6514612..6517402,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269781	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10951986	0.82[CHB][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes]
rs11766121	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975679	1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12113949	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13233173	0.82[CHB][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes]
rs13239407	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523609	0.87[CHB][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs2230263	0.97[ASN][1000 genomes]
rs2347780	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881722	0.92[ASN][1000 genomes]
rs4720677	0.85[AMR][1000 genomes]
rs4724811	1.00[ASW][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs4724812	0.88[EUR][1000 genomes]
rs4724813	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58885063	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463560	0.95[ASN][1000 genomes]
rs6463561	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6463562	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463563	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463564	0.83[CHB][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs6463565	0.90[EUR][1000 genomes]
rs6463567	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6463568	0.90[AMR][1000 genomes]
rs6945009	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6953782	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6959389	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959558	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959768	0.82[CHB][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6960903	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6961571	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs6964421	0.87[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs7782950	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7788091	0.83[CHB][hapmap]
rs7796667	0.90[EUR][1000 genomes]
rs7799479	0.88[AMR][1000 genomes]
rs7800342	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs940243	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6499600-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:6499800-6517000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:6500800-6517000	Strong transcription	Dnd41	blood
4	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:6505000-6521400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:6507000-6519400	Weak transcription	Fetal Heart	heart
7	chr7:6507600-6522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:6508000-6520200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:6508000-6522000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:6509200-6517600	Strong transcription	K562	blood
12	chr7:6509200-6521400	Strong transcription	NHEK	skin
13	chr7:6509800-6519600	Weak transcription	Fetal Kidney	kidney
14	chr7:6509800-6522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:6510200-6516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:6510200-6518800	Weak transcription	Small Intestine	intestine
17	chr7:6510200-6519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:6510200-6522200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:6510200-6522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:6510200-6522600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:6510400-6519800	Weak transcription	Brain Anterior Caudate	brain
22	chr7:6511600-6521600	Weak transcription	Fetal Brain Male	brain
23	chr7:6512200-6520800	Weak transcription	Esophagus	oesophagus
24	chr7:6512600-6517200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:6512800-6519400	Weak transcription	Brain Germinal Matrix	brain
26	chr7:6513200-6516800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:6513200-6516800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:6513200-6518800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:6513200-6518800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:6513200-6519800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:6513200-6522400	Weak transcription	Aorta	Aorta
32	chr7:6513200-6522400	Weak transcription	Lung	lung
33	chr7:6513400-6518800	Weak transcription	Fetal Brain Female	brain
34	chr7:6513400-6521200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:6513400-6521200	Weak transcription	Brain Substantia Nigra	brain
36	chr7:6513600-6521200	Weak transcription	Fetal Lung	lung
37	chr7:6513800-6518000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:6513800-6520000	Weak transcription	Colonic Mucosa	Colon
39	chr7:6513800-6520600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:6514000-6517000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:6514000-6519600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:6514000-6519600	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:6514000-6522400	Weak transcription	Thymus	Thymus
44	chr7:6514200-6518400	Genic enhancers	HepG2	liver
45	chr7:6514200-6519400	Weak transcription	Hela-S3	cervix
46	chr7:6514200-6520000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:6514200-6522000	Genic enhancers	Fetal Muscle Leg	muscle
48	chr7:6514400-6516800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:6514400-6517000	Enhancers	Pancreas	Pancrea
50	chr7:6514400-6519600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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