Variant report

Variant	rs6969516
Chromosome Location	chr7:27785638-27785639
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:27784788..27787305-chr7:27787434..27789144,2	K562	blood:
2	chr7:27784875..27785736-chr7:28059293..28060597,3	MCF-7	breast:
3	chr7:27784901..27786438-chr7:27809644..27811195,2	K562	blood:
4	chr7:27777088..27781357-chr7:27783261..27787943,9	MCF-7	breast:
5	chr7:27783237..27786573-chr7:27802443..27806955,4	K562	blood:
6	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
7	chr7:27783427..27786063-chr7:27789814..27792025,2	MCF-7	breast:
8	chr7:27785607..27787988-chr7:27790744..27792457,5	K562	blood:
9	chr7:27784566..27786951-chr7:27787434..27790221,3	K562	blood:
10	chr7:27784235..27786861-chr7:27801505..27804201,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000153814	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10249314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1029604	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540483	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11761773	1.00[AFR][1000 genomes]
rs1468443	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680908	1.00[AFR][1000 genomes]
rs2158892	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs42090	0.80[AMR][1000 genomes]
rs42114	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4719905	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722731	0.97[EUR][1000 genomes]
rs4722736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070801	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60426718	0.90[EUR][1000 genomes]
rs62454852	1.00[AFR][1000 genomes]
rs62454853	1.00[AFR][1000 genomes]
rs62454911	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62454912	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62454913	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62456949	1.00[AFR][1000 genomes]
rs6462044	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462045	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6946582	1.00[AFR][1000 genomes]
rs6960451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6970160	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073377	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073379	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073380	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073387	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073388	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073393	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075112	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075307	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075310	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075311	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075322	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075325	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075329	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075331	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075354	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075359	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075361	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075375	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075378	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73078776	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73078778	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73083352	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73083361	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73083363	0.82[AMR][1000 genomes]
rs73083364	0.82[AMR][1000 genomes]
rs73083371	0.82[AMR][1000 genomes]
rs73083377	0.82[AMR][1000 genomes]
rs73083378	0.82[AMR][1000 genomes]
rs7795207	1.00[AFR][1000 genomes]
rs7807729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:27780800-27789400	Weak transcription	Lung	lung
3	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:27780800-27815200	Weak transcription	Gastric	stomach
7	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
10	chr7:27781200-27788000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:27781200-27788000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:27781200-27788400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:27781200-27788800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:27781200-27789000	Weak transcription	Fetal Thymus	thymus
15	chr7:27781200-27789400	Weak transcription	Thymus	Thymus
16	chr7:27781200-27789600	Weak transcription	Fetal Brain Female	brain
17	chr7:27781200-27790200	Weak transcription	Fetal Brain Male	brain
18	chr7:27781200-27791800	Weak transcription	Right Ventricle	heart
19	chr7:27781200-27792000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:27781400-27789400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:27781400-27789600	Weak transcription	Esophagus	oesophagus
22	chr7:27781400-27799600	Weak transcription	Fetal Stomach	stomach
23	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:27782400-27788200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:27782400-27788200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:27782400-27788200	Weak transcription	Placenta	Placenta
28	chr7:27782800-27787200	Weak transcription	Small Intestine	intestine
29	chr7:27783200-27787800	Weak transcription	Primary B cells from cord blood	blood
30	chr7:27784000-27785800	Enhancers	HUVEC	blood vessel
31	chr7:27784000-27787800	Enhancers	Liver	Liver
32	chr7:27784200-27786000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:27784200-27787600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr7:27784200-27788000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:27784400-27786200	Enhancers	Primary T cells from cord blood	blood
36	chr7:27784400-27787400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr7:27784400-27788000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:27784600-27786800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:27784600-27787600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:27784800-27786000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:27784800-27786000	Weak transcription	Fetal Intestine Small	intestine
42	chr7:27784800-27786800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:27784800-27787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:27784800-27787400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:27784800-27788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:27784800-27789000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:27784800-27789000	Weak transcription	Colonic Mucosa	Colon
48	chr7:27784800-27789200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:27784800-27789200	Weak transcription	HSMMtube	muscle
50	chr7:27784800-27790400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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