Variant report

Variant	rs7496530
Chromosome Location	chr15:49445811-49445812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:49445758-49445943	MCF10A-Er-Src	breast:	n/a	n/a
2	ARID3A	chr15:49445671-49445860	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:49445500..49449019-chr15:49469042..49472548,3	K562	blood:
2	chr15:49443824..49452367-chr15:49460648..49465189,20	K562	blood:
3	chr15:49444143..49446024-chr15:49446403..49449314,2	K562	blood:
4	chr15:49445500..49448180-chr15:49469776..49471285,2	K562	blood:
5	chr15:49443895..49446170-chr15:49446201..49449233,4	MCF-7	breast:

No data

Variant related genes	Relation type
GALK2	TF binding region
NDUFAF4P1	TF binding region
ENSG00000166200	Chromatin interaction
ENSG00000259545	Chromatin interaction
ENSG00000264210	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000259467	Chromatin interaction

rs_ID	r²[population]
rs16962079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16962260	1.00[AMR][1000 genomes]
rs16962301	1.00[AMR][1000 genomes]
rs2413940	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012342	1.00[AMR][1000 genomes]

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49413600-49447000	Weak transcription	Stomach Mucosa	stomach
2	chr15:49420200-49447000	Weak transcription	Spleen	Spleen
3	chr15:49420400-49447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:49429200-49447000	Weak transcription	Esophagus	oesophagus
5	chr15:49433800-49446600	Weak transcription	Fetal Intestine Small	intestine
6	chr15:49435600-49446600	Weak transcription	Right Ventricle	heart
7	chr15:49435800-49446000	Weak transcription	Fetal Kidney	kidney
8	chr15:49435800-49446000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:49435800-49446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:49435800-49446600	Weak transcription	HSMMtube	muscle
11	chr15:49435800-49446800	Weak transcription	Aorta	Aorta
12	chr15:49435800-49446800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr15:49436000-49446000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:49436000-49446600	Weak transcription	Fetal Stomach	stomach
15	chr15:49436000-49446600	Weak transcription	Fetal Thymus	thymus
16	chr15:49436000-49446800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:49436000-49446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:49436000-49447000	Weak transcription	Gastric	stomach
19	chr15:49436000-49447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:49436200-49446600	Weak transcription	Fetal Lung	lung
21	chr15:49436200-49446600	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:49436200-49447000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:49436400-49447000	Weak transcription	Left Ventricle	heart
24	chr15:49437000-49446600	Weak transcription	Fetal Brain Female	brain
25	chr15:49437200-49446000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:49437200-49446000	Weak transcription	Fetal Intestine Large	intestine
27	chr15:49437200-49446800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr15:49437400-49446000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:49437400-49446800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:49437400-49446800	Weak transcription	Placenta	Placenta
31	chr15:49438800-49446200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:49439200-49446600	Weak transcription	Psoas Muscle	Psoas
33	chr15:49440800-49446400	Weak transcription	Right Atrium	heart
34	chr15:49441000-49446600	Weak transcription	Ovary	ovary
35	chr15:49441000-49446800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:49441000-49447000	Weak transcription	Small Intestine	intestine
37	chr15:49441800-49446000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr15:49442000-49446000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:49442000-49446000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:49442000-49446000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:49442000-49446600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:49442400-49446600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:49443000-49446800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:49443200-49446600	Weak transcription	HSMM	muscle
45	chr15:49443200-49446800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:49444600-49446000	Enhancers	NH-A	brain
47	chr15:49444600-49446600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr15:49444800-49446000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr15:49444800-49446000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:49444800-49446200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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