Variant report

Variant	rs2302000
Chromosome Location	chr7:22165180-22165181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22159203..22161376-chr7:22163645..22165247,2	MCF-7	breast:
2	chr7:22163322..22168112-chr7:22173973..22177672,4	K562	blood:

Variant related genes	Relation type
ENSG00000136237	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1419755	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs17146637	1.00[YRI][hapmap]
rs1859804	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs3823666	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6972953	0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2302000	FERD3L	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22149800-22177600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:22150000-22177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:22150200-22173200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:22153000-22193000	Strong transcription	Dnd41	blood
5	chr7:22154400-22169800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:22155600-22178200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:22156000-22167600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:22156000-22181000	Weak transcription	Gastric	stomach
9	chr7:22156000-22186600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:22156800-22186400	Strong transcription	Liver	Liver
11	chr7:22157800-22174600	Weak transcription	Colonic Mucosa	Colon
12	chr7:22158800-22166000	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr7:22159000-22167400	Weak transcription	HMEC	breast
14	chr7:22159800-22172400	Weak transcription	Fetal Stomach	stomach
15	chr7:22159800-22175800	Weak transcription	HSMMtube	muscle
16	chr7:22159800-22214000	Weak transcription	Small Intestine	intestine
17	chr7:22160000-22173600	Strong transcription	HepG2	liver
18	chr7:22160400-22183000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:22161200-22168600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:22161200-22169000	Enhancers	HUVEC	blood vessel
21	chr7:22161400-22166200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:22161600-22169600	Weak transcription	Aorta	Aorta
23	chr7:22162000-22165200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:22162000-22174800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:22162200-22166200	Strong transcription	Brain Anterior Caudate	brain
26	chr7:22162200-22167600	Weak transcription	Osteobl	bone
27	chr7:22162200-22181400	Weak transcription	Primary T cells from cord blood	blood
28	chr7:22162200-22186600	Weak transcription	GM12878-XiMat	blood
29	chr7:22162200-22198000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:22162400-22166000	Strong transcription	Brain Hippocampus Middle	brain
31	chr7:22162400-22177800	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:22163000-22169400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:22163000-22179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:22163000-22187800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:22163000-22190600	Strong transcription	Fetal Thymus	thymus
36	chr7:22163200-22167200	Strong transcription	Brain Cingulate Gyrus	brain
37	chr7:22163200-22167400	Weak transcription	NHEK	skin
38	chr7:22163200-22169200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:22163200-22169400	Weak transcription	Spleen	Spleen
40	chr7:22163200-22169600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:22163200-22178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:22163200-22181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:22163200-22186800	Weak transcription	Right Atrium	heart
44	chr7:22163600-22165200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:22163600-22165400	Strong transcription	Brain Angular Gyrus	brain
46	chr7:22163600-22167800	Weak transcription	K562	blood
47	chr7:22163600-22179000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:22164000-22165600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:22164200-22165400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:22164200-22165400	Enhancers	Cortex derived primary cultured neurospheres	brain

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