Variant report

Variant	rs376991635
Chromosome Location	chr2:148668915-148668916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:147491746..147492520-chr2:148668078..148668944,3	MCF-7	breast:
2	chr2:148379824..148380376-chr2:148668170..148668996,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148642800-148670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:148645600-148671000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:148645800-148671400	Weak transcription	Fetal Heart	heart
6	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:148646600-148671200	Weak transcription	HMEC	breast
8	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
10	chr2:148649600-148674800	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:148652800-148693600	Weak transcription	Lung	lung
15	chr2:148653200-148692000	Weak transcription	Ovary	ovary
16	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
17	chr2:148653600-148671000	Weak transcription	Osteobl	bone
18	chr2:148653600-148671400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:148653600-148673400	Weak transcription	HepG2	liver
20	chr2:148653800-148671600	Weak transcription	Fetal Stomach	stomach
21	chr2:148653800-148672800	Weak transcription	Liver	Liver
22	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
23	chr2:148655200-148674800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:148655400-148671600	Weak transcription	Brain Angular Gyrus	brain
25	chr2:148655800-148671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:148655800-148671200	Weak transcription	Fetal Brain Male	brain
27	chr2:148656200-148676800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:148657800-148674400	Weak transcription	Fetal Kidney	kidney
29	chr2:148657800-148674400	Weak transcription	Left Ventricle	heart
30	chr2:148657800-148683000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:148658000-148671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:148658000-148672600	Weak transcription	Fetal Intestine Large	intestine
33	chr2:148658600-148670800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:148658600-148674400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
36	chr2:148659600-148671000	Weak transcription	Brain Anterior Caudate	brain
37	chr2:148659600-148671000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:148659600-148719800	Weak transcription	Gastric	stomach
39	chr2:148660200-148673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:148661200-148673400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
42	chr2:148662000-148683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:148662400-148671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:148663000-148692200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:148663800-148671000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:148664000-148671200	Weak transcription	HSMM	muscle
47	chr2:148664200-148672800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:148664600-148670400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:148664800-148671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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