Variant report

Variant	rs7690082
Chromosome Location	chr4:77947505-77947506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr4:77947076-77947532	GM12878	blood:	n/a	n/a
2	IRF4	chr4:77947052-77947547	GM12878	blood:	n/a	n/a
3	HNF4A	chr4:77947475-77947792	HepG2	liver:	n/a	n/a
4	RUNX3	chr4:77947018-77947528	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77880541..77882067-chr4:77947472..77949281,2	K562	blood:
2	chr4:77938197..77939954-chr4:77945699..77948266,2	MCF-7	breast:
3	chr4:77869348..77872612-chr4:77944118..77947596,4	K562	blood:
4	chr4:77868401..77872085-chr4:77945369..77947596,3	K562	blood:

Variant related genes	Relation type
SEPT11	TF binding region
ENSG00000138758	Chromatin interaction

rs_ID	r²[population]
rs17002342	1.00[AMR][1000 genomes]
rs17002354	1.00[AMR][1000 genomes]
rs4252749	1.00[AMR][1000 genomes]
rs4252775	1.00[AMR][1000 genomes]
rs4252791	1.00[AMR][1000 genomes]
rs4252812	1.00[AMR][1000 genomes]
rs4252859	1.00[AMR][1000 genomes]
rs4252934	1.00[AMR][1000 genomes]
rs4252939	1.00[AMR][1000 genomes]
rs4252944	1.00[AMR][1000 genomes]
rs4252945	1.00[AMR][1000 genomes]
rs4476626	1.00[AMR][1000 genomes]
rs57303670	1.00[AMR][1000 genomes]
rs60458841	1.00[AMR][1000 genomes]
rs73826493	1.00[AMR][1000 genomes]
rs73826720	1.00[AMR][1000 genomes]
rs73826723	1.00[AMR][1000 genomes]
rs73829817	1.00[AMR][1000 genomes]

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77928200-77960800	Strong transcription	Fetal Intestine Large	intestine
2	chr4:77928600-77947600	Weak transcription	Psoas Muscle	Psoas
3	chr4:77929400-77961800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:77931400-77949400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:77931400-77952000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:77932200-77962000	Strong transcription	Fetal Brain Female	brain
7	chr4:77934000-77957400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr4:77935600-77950800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr4:77935800-77957800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr4:77935800-77960800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:77936000-77957600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr4:77936000-77959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:77936200-77961800	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:77936400-77949200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:77936600-77949000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:77937000-77949200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:77937200-77948600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:77937400-77981400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:77939200-77948800	Strong transcription	Fetal Intestine Small	intestine
20	chr4:77939800-77947800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:77939800-77960800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:77940000-77947800	Strong transcription	Primary T cells from cord blood	blood
23	chr4:77940000-77950400	Strong transcription	Fetal Lung	lung
24	chr4:77940000-77952600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:77940000-77956800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:77940200-77947800	Strong transcription	Brain Germinal Matrix	brain
27	chr4:77940200-77947800	Strong transcription	Spleen	Spleen
28	chr4:77942000-77952800	Weak transcription	Brain Angular Gyrus	brain
29	chr4:77942200-77948600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:77942400-77949200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:77942400-77952200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:77942800-77961000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:77943200-77949000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:77943200-77954600	Weak transcription	Brain Substantia Nigra	brain
35	chr4:77943400-77952000	Weak transcription	A549	lung
36	chr4:77943800-77969200	Weak transcription	Stomach Mucosa	stomach
37	chr4:77944000-77955800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:77944000-77957600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:77944000-77962800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:77944200-77952600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:77944200-77953200	Strong transcription	Fetal Stomach	stomach
42	chr4:77944200-77956200	Strong transcription	HMEC	breast
43	chr4:77944200-77956400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:77944200-77957200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr4:77944200-77961200	Strong transcription	Placenta	Placenta
46	chr4:77944200-77983200	Weak transcription	Small Intestine	intestine
47	chr4:77944400-77952600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:77944400-77954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:77944400-77956000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:77944400-77956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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